| 51. |
- Harris, WS, et al.
(author)
-
Blood n-3 fatty acid levels and total and cause-specific mortality from 17 prospective studies
- 2021
-
In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 12:1, s. 2329-
-
Journal article (peer-reviewed)abstract
- The health effects of omega-3 fatty acids have been controversial. Here we report the results of a de novo pooled analysis conducted with data from 17 prospective cohort studies examining the associations between blood omega-3 fatty acid levels and risk for all-cause mortality. Over a median of 16 years of follow-up, 15,720 deaths occurred among 42,466 individuals. We found that, after multivariable adjustment for relevant risk factors, risk for death from all causes was significantly lower (by 15–18%, at least p < 0.003) in the highest vs the lowest quintile for circulating long chain (20–22 carbon) omega-3 fatty acids (eicosapentaenoic, docosapentaenoic, and docosahexaenoic acids). Similar relationships were seen for death from cardiovascular disease, cancer and other causes. No associations were seen with the 18-carbon omega-3, alpha-linolenic acid. These findings suggest that higher circulating levels of marine n-3 PUFA are associated with a lower risk of premature death.
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| 52. |
- Ittermann, T., et al.
(author)
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Standardized Map of Iodine Status in Europe
- 2020
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In: Thyroid. - : Mary Ann Liebert Inc. - 1050-7256 .- 1557-9077. ; 30:9
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Journal article (peer-reviewed)abstract
- Background:Knowledge about the population's iodine status is important, because it allows adjustment of iodine supply and prevention of iodine deficiency. The validity and comparability of iodine-related population studies can be improved by standardization, which was one of the goals of the EUthyroid project. The aim of this study was to establish the first standardized map of iodine status in Europe by using standardized urinary iodine concentration (UIC) data. Materials and Methods:We established a gold-standard laboratory in Helsinki measuring UIC by inductively coupled plasma mass spectrometry. A total of 40 studies from 23 European countries provided 75 urine samples covering the whole range of concentrations. Conversion formulas for UIC derived from the gold-standard values were established by linear regression models and were used to postharmonize the studies by standardizing the UIC data of the individual studies. Results:In comparison with the EUthyroid gold-standard, mean UIC measurements were higher in 11 laboratories and lower in 10 laboratories. The mean differences ranged from -36.6% to 49.5%. Of the 40 postharmonized studies providing data for the standardization, 16 were conducted in schoolchildren, 13 in adults, and 11 in pregnant women. Median standardized UIC was <100 mu g/L in 1 out of 16 (6.3%) studies in schoolchildren, while in adults 7 out of 13 (53.8%) studies had a median standardized UIC <100 mu g/L. Seven out of 11 (63.6%) studies in pregnant women revealed a median UIC Conclusions:We demonstrate that iodine deficiency is still present in Europe, using standardized data from a large number of studies. Adults and pregnant women, particularly, are at risk for iodine deficiency, which calls for action. For instance, a more uniform European legislation on iodine fortification is warranted to ensure that noniodized salt is replaced by iodized salt more often. In addition, further efforts should be put on harmonizing iodine-related studies and iodine measurements to improve the validity and comparability of results.
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| 53. |
- Lundstedt, Staffan, et al.
(author)
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First intercomparison study on the analysis of oxygenated polycyclic aromatic hydrocarbons (oxy-PAHs) and nitrogen heterocyclic polycyclic aromatic compounds (N-PACs) in contaminated soil
- 2014
-
In: TrAC. Trends in analytical chemistry. - : Elsevier. - 0165-9936 .- 1879-3142. ; 57, s. 83-92
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Research review (peer-reviewed)abstract
- Oxygenated polycyclic aromatic hydrocarbons (oxy-PAHs) and nitrogen heterocyclic polycyclic aromatic compounds (N-PACs) are toxic, highly leachable and often abundant at sites that are also contaminated with PAHs. However, due to lack of regulations and standardized methods for their analysis, they are seldom included in monitoring and risk-assessment programs. This intercomparison study constitutes an important step in the harmonization of the analytical methods currently used, and may also be considered a first step towards the certification of reference materials for these compounds. The results showed that the participants were able to determine oxy-PAHs with accuracy similar to PAHs, with average determined mass fractions agreeing well with the known levels in a spiked soil and acceptable inter- and intra-laboratory precisions for all soils analyzed. For the N-PACs, the results were less satisfactory, and have to be improved by using analytical methods more specifically optimized for these compounds.
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| 54. |
- Mila-Aloma, M., et al.
(author)
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Cognitively unimpaired individuals with a low burden of A beta pathology have a distinct CSF biomarker profile
- 2021
-
In: Alzheimers Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 13:1
-
Journal article (peer-reviewed)abstract
- Background: Understanding the changes that occur in the transitional stage between absent and overt amyloid-beta (A beta) pathology within the Alzheimer's continuum is crucial to develop therapeutic and preventive strategies. The objective of this study is to test whether cognitively unimpaired individuals with a low burden of A beta pathology have a distinct CSF, structural, and functional neuroimaging biomarker profile. Methods: Cross-sectional study of 318 middle-aged, cognitively unimpaired individuals from the ALFA+ cohort. We measured CSF A beta 42/40, phosphorylated tau (p-tau), total tau (t-tau), neurofilament light (NfL), neurogranin, sTREM2, YKL40, GFAP, IL6, S100B, and alpha-synuclein. Participants also underwent cognitive assessments, APOE genotyping, structural MRI, [F-18]-FDG, and [F-18]-flutemetamol PET. To ensure the robustness of our results, we used three definitions of low burden of A beta pathology: (1) positive CSF A beta 42/40 and < 30 Centiloids in A beta PET, (2) positive CSF A beta 42/40 and negative A beta PET visual read, and (3) 20-40 Centiloid range in A beta PET. We tested CSF and neuroimaging biomarker differences between the low burden group and the corresponding A beta-negative group, adjusted by age and sex. Results: The prevalence and demographic characteristics of the low burden group differed between the three definitions. CSF p-tau and t-tau were increased in the low burden group compared to the A beta-negative in all definitions. CSF neurogranin was increased in the low burden group definitions 1 and 3, while CSF NfL was only increased in the low burden group definition 1. None of the defined low burden groups showed signs of atrophy or glucose hypometabolism. Instead, we found slight increases in cortical thickness and metabolism in definition 2. Conclusions: There are biologically meaningful A beta-downstream effects in individuals with a low burden of A beta pathology, while structural and functional changes are still subtle or absent. These findings support considering individuals with a low burden of A beta pathology for clinical trials.
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| 55. |
- Miura, R.E., et al.
(author)
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A giant molecular cloud catalogue in the molecular disc of the elliptical galaxy NGC 5128 (Centaurus A)
- 2021
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In: Monthly Notices of the Royal Astronomical Society. - : Oxford University Press (OUP). - 0035-8711 .- 1365-2966. ; 504:4, s. 6198-6215
-
Journal article (peer-reviewed)abstract
- We present the first census of giant molecular clouds (GMCs) complete down to 106 M⊙ and within the inner 4 kpc of the nearest giant elliptical and powerful radio galaxy, Centaurus A. We identified 689 GMCs using CO(1-0) data with 1 arcsec spatial resolution (∼20 pc) and 2 km s-1 velocity resolution obtained with the Atacama Large Millimeter/submillimeter Array. The I(CO)-N(H2) conversion factor based on the virial method is XCO = (2 ± 1) × 1020 cm-2(K km s-1)-1 for the entire molecular disc, consistent with that of the discs of spiral galaxies including the Milky Way, and XCO = (5 ± 2) × 1020 cm-2(K km s-1)-1 for the circumnuclear disc (CND; within a galactocentric radius of 200 pc). We obtained the GMC mass spectrum distribution and find that the best truncated power-law fit for the whole molecular disc, with index γ≃ -2.41 ± 0.02 and upper cut-off mass $\sim \! 1.3\times 10^{7}\, \mathrm{M}_{\odot }$, is also in agreement with that of nearby disc galaxies. A trend is found in the mass spectrum index from steep to shallow as we move to inner radii. Although the GMCs are in an elliptical galaxy, the general GMC properties in the molecular disc are as in spiral galaxies. However, in the CND, large offsets in the line-width-size scaling relations (∼0.3 dex higher than those in the GMCs in the molecular disc), a different XCO factor, and the shallowest GMC mass distribution shape (γ= -1.1 ± 0.2) all suggest that there the GMCs are most strongly affected by the presence of the active galactic nucleus and/or shear motions.
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| 56. |
- Musiani, Marco, et al.
(author)
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Differentiation of tundra/taiga and boreal coniferous forest wolves : genetics, coat colour and association with migratory caribou.
- 2007
-
In: Molecular Ecology. - 0962-1083 .- 1365-294X. ; 16:19, s. 4149-4170
-
Research review (peer-reviewed)abstract
- The grey wolf has one of the largest historic distributions of any terrestrial mammal and can disperse over great distances across imposing topographic barriers. As a result, geographical distance and physical obstacles to dispersal may not be consequential factors in the evolutionary divergence of wolf populations. However, recent studies suggest ecological features can constrain gene flow. We tested whether wolf-prey associations in uninterrupted tundra and forested regions of Canada explained differences in migratory behaviour, genetics, and coat colour of wolves. Satellite-telemetry data demonstrated that tundra wolves (n = 19) migrate annually with caribou (n = 19) from denning areas in the tundra to wintering areas south of the treeline. In contrast, nearby boreal coniferous forest wolves are territorial and associated year round with resident prey. Spatially explicit analysis of 14 autosomal microsatellite loci (n = 404 individuals) found two genetic clusters corresponding to tundra vs. boreal coniferous forest wolves. A sex bias in gene flow was inferred based on higher levels of mtDNA divergence (F(ST) = 0.282, 0.028 and 0.033; P < 0.0001 for mitochondrial, nuclear autosomal and Y-chromosome markers, respectively). Phenotypic differentiation was substantial as 93% of wolves from tundra populations exhibited light colouration whereas only 38% of boreal coniferous forest wolves did (chi(2) = 64.52, P < 0.0001). The sharp boundary representing this discontinuity was the southern limit of the caribou migration. These findings show that substantial genetic and phenotypic differentiation in highly mobile mammals can be caused by prey-habitat specialization rather than distance or topographic barriers. The presence of a distinct wolf ecotype in the tundra of North America highlights the need to preserve migratory populations.
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| 57. |
- Nohalez, A., et al.
(author)
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Factors of importance when selecting sows as embryo donors
- 2017
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In: Animal. - : CAMBRIDGE UNIV PRESS. - 1751-7311 .- 1751-732X. ; 11:8, s. 1330-1335
-
Journal article (peer-reviewed)abstract
- The improvement in porcine embryo preservation and non-surgical embryo transfer (ET) procedures achieved in recent years represents essential progress for the practical use of ET in the pig industry. This study aimed to evaluate the effects of parity, weaning-to-estrus interval (WEI) and season on reproductive and embryonic parameters at day 6 after insemination of donor sows superovulated after weaning. The selection of donor sows was based on their reproductive history, body condition and parity. The effects of parity at weaning (2 to 3, 4 to 5 or 6 to 7 litters), season (fall, winter and spring), and WEI (estrus within 3 to 4 days), and their interactions on the number of corpus luteum, cysts in sows with cysts, number and quality of viable and transferable embryos, embryo developmental stage and recovery and fertilization rates were evaluated using linear mixed effects models. The analyses showed a lack of significant effects of parity, season, WEI or their interactions on any of the reproductive and embryonic parameters examined. In conclusion, these results demonstrate that fertilization rates and numbers of viable and transferable embryos collected at day 6 of the cycle from superovulated donor sows are not affected by their parity, regardless of the time of the year (from fall to spring) and WEI (3 or 4 days).
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| 58. |
- Quiroz, Y. T., et al.
(author)
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Plasma neurofilament light chain in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional and longitudinal cohort study
- 2020
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In: Lancet Neurology. - 1474-4422. ; 19:6, s. 513-521
-
Journal article (peer-reviewed)abstract
- Background Neurofilament light chain (NfL) is a promising biomarker of active axonal injury and neuronal degeneration. We aimed to characterise cross-sectional and longitudinal plasma NfL measurements and determine the age at which NfL concentrations begin to differentiate between carriers of the presenilin 1 (PSEN1) E280A (G1u280A1a) mutation and age-matched non-carriers from the Colombian autosomal dominant Alzheimer's disease kindred. Methods In this cross-sectional and longitudinal cohort study, members of the familial Alzheimer's disease Colombian kindred aged 8-75 years with no other neurological or health conditions were recruited from the Alzheimer's Prevention Initiative Registry at the University of Antioquia (Medellin, Colombia) between Aug 1, 1995, and Dec 15, 2018. We used a single molecule array immunoassay and log-transformed data to examine the relationship between plasma NfL concentrations and age, and establish the earliest age at which NfL concentrations begin to diverge between mutation carriers and non-carriers. Findings We enrolled a cohort of 1070 PSEN1 E280A mutation carriers and 1074 non-carriers with baseline assessments; of these participants, longitudinal measures (with a mean follow-up of 6 years) were available for 242 mutation carriers and 262 non-carriers. Plasma NfL measurements increased with age in both groups (p<0 . 0001), and began to differentiate carriers from non-carriers when aged 22 years (22 years before the estimated median age at mild cognitive impairment onset of 44 years), although the ability of plasma NfL to discriminate between carriers and non-carriers only reached high sensitivity close to the age of clinical onset. Interpretation Our findings further support the promise of plasma NfL as a biomarker of active neurodegeneration in the detection and tracking of Alzheimer's disease and the evaluation of disease-modifying therapies. (C) 2020 Elsevier Ltd. All rights reserved.
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| 59. |
- Riggi, Laura, et al.
(author)
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Early-season mass-flowering crop cover dilutes wild bee abundance and species richness in temperate regions : A quantitative synthesis
- 2024
-
In: Journal of Applied Ecology. - 0021-8901 .- 1365-2664.
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Journal article (peer-reviewed)abstract
- Pollinators benefit from increasing floral resources in agricultural landscapes, which could be an underexplored co-benefit of mass-flowering crop cultivation. However, the impacts of mass-flowering crops on pollinator communities are complex and appear to be context-dependent, mediated by factors such as crop flowering time and the availability of other flower resources in the landscape. A synthesis of research is needed to develop management recommendations for effective pollinator conservation in agroecosystems. By combining 22 datasets from 13 publications conducted in nine temperate countries (20 European, 2 North American), we investigated if mass-flowering crop flowering time (early or late season), bloom state (during or after crop flowering) and extent of non-crop habitat cover in the landscape moderated the effect of mass-flowering crop cover on wild pollinator abundance and species richness in mass-flowering crop and non-crop habitats. During bloom, wild bee abundance and richness are negatively related to mass-flowering crop cover. Dilution effects were predominant in crop habitats and early in the season, except for bumblebees, which declined with mass-flowering crop cover irrespective of habitat or season. Late in the season and in non-crop habitats, several of these negative relationships were either absent or reversed. Late-season mass-flowering crop cover is positively related to honeybee abundance in crop habitats and to other bee abundance in non-crop habitats. These results indicate that crop-adapted species, like honeybees, move to forage and concentrate on late-season mass-flowering crops at a time when flower availability in the landscape is limited, potentially alleviating competition for flower resources in non-crop habitats. We found no evidence of pollinators moving from mass-flowering crop to non-crop habitats after crop bloom. Synthesis and applications: Our results confirm that increasing early-season mass-flowering crop cover dilutes wild pollinators in crop habitats during bloom. We find that dilution effects were absent late in the season. While mass-flowering crop cultivation alone is unlikely to be sufficient for maintaining pollinators, as part of carefully designed diverse crop rotations or mixtures combined with the preservation of permanent non-crop habitats, it might provide valuable supplementary food resources for pollinators in temperate agroecosystems, particularly later in the season when alternative flower resources are scarce.
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| 60. |
- Rodriguez-Fernandez, B., et al.
(author)
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Genetically predicted telomere length and Alzheimer's disease endophenotypes: a Mendelian randomization study
- 2022
-
In: Alzheimers Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 14:1
-
Journal article (peer-reviewed)abstract
- Telomere length (TL) is associated with biological aging, consequently influencing the risk of age-related diseases such as Alzheimer's disease (AD). We aimed to evaluate the potential causal role of TL in AD endophenotypes (i.e., cognitive performance, N = 2233; brain age and AD-related signatures, N = 1134; and cerebrospinal fluid biomarkers (CSF) of AD and neurodegeneration, N = 304) through a Mendelian randomization (MR) analysis. Our analysis was conducted in the context of the ALFA (ALzheimer and FAmilies) study, a population of cognitively healthy individuals at risk of AD. A total of 20 single nucleotide polymorphisms associated with TL were used to determine the effect of TL on AD endophenotypes. Analyses were adjusted by age, sex, and years of education. Stratified analyses by APOE-epsilon 4 status and polygenic risk score of AD were conducted. MR analysis revealed significant associations between genetically predicted longer TL and lower levels of CSF A beta and higher levels of CSF NfL only in APOE-epsilon 4 non-carriers. Moreover, inheriting longer TL was associated with greater cortical thickness in age and AD-related brain signatures and lower levels of CSF p-tau among individuals at a high genetic predisposition to AD. Further observational analyses are warranted to better understand these associations.
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| 61. |
- Schweiger, Oliver, et al.
(author)
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Multiple stressors on biotic interactions: how climate change and alien species interact to affect pollination
- 2010
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In: Biological Reviews. - 1469-185X .- 1464-7931. ; 85:4, s. 777-795
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Research review (peer-reviewed)abstract
- Global change may substantially affect biodiversity and ecosystem functioning but little is known about its effects on essential biotic interactions. Since different environmental drivers rarely act in isolation it is important to consider interactive effects. Here, we focus on how two key drivers of anthropogenic environmental change, climate change and the introduction of alien species, affect plant-pollinator interactions. Based on a literature survey we identify climatically sensitive aspects of species interactions, assess potential effects of climate change on these mechanisms, and derive hypotheses that may form the basis of future research. We find that both climate change and alien species will ultimately lead to the creation of novel communities. In these communities certain interactions may no longer occur while there will also be potential for the emergence of new relationships. Alien species can both partly compensate for the often negative effects of climate change but also amplify them in some cases. Since potential positive effects are often restricted to generalist interactions among species, climate change and alien species in combination can result in significant threats to more specialist interactions involving native species.
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| 62. |
- Talibov, M, et al.
(author)
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Parental occupational exposure to low-frequency magnetic fields and risk of leukaemia in the offspring: findings from the Childhood Leukaemia International Consortium (CLIC)
- 2019
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In: Occupational and environmental medicine. - : BMJ. - 1470-7926 .- 1351-0711. ; 76:10, s. 746-753
-
Journal article (peer-reviewed)abstract
- Previously published studies on parental occupational exposure to extremely low-frequency magnetic fields (ELF-MF) and risk of acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML) in their offspring were inconsistent. We therefore evaluated this question within the Childhood Leukemia International Consortium.MethodsWe pooled 11 case–control studies including 9723 childhood leukaemia cases and 17 099 controls. Parental occupational ELF-MF exposure was estimated by linking jobs to an ELF-MF job-exposure matrix (JEM). Logistic regression models were used to estimate ORs and 95% CIs in pooled analyses and meta-analyses.ResultsORs from pooled analyses for paternal ELF-MF exposure >0.2 microtesla (µT) at conception were 1.04 (95% CI 0.95 to 1.13) for ALL and 1.06 (95% CI 0.87 to 1.29) for AML, compared with ≤0.2 µT. Corresponding ORs for maternal ELF-MF exposure during pregnancy were 1.00 (95% CI 0.89 to 1.12) for ALL and 0.85 (95% CI 0.61 to 1.16) for AML. No trends of increasing ORs with increasing exposure level were evident. Furthermore, no associations were observed in the meta-analyses.ConclusionsIn this large international dataset applying a comprehensive quantitative JEM, we did not find any associations between parental occupational ELF-MF exposure and childhood leukaemia.
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| 63. |
- Vandenput, Liesbeth, et al.
(author)
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A meta-analysis of previous falls and subsequent fracture risk in cohort studies
- 2024
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In: Osteoporosis International. - : Springer. - 0937-941X .- 1433-2965. ; 35:3, s. 469-494
-
Journal article (peer-reviewed)abstract
- SummaryThe relationship between self-reported falls and fracture risk was estimated in an international meta-analysis of individual-level data from 46 prospective cohorts. Previous falls were associated with an increased fracture risk in women and men and should be considered as an additional risk factor in the FRAX® algorithm.IntroductionPrevious falls are a well-documented risk factor for subsequent fracture but have not yet been incorporated into the FRAX algorithm. The aim of this study was to evaluate, in an international meta-analysis, the association between previous falls and subsequent fracture risk and its relation to sex, age, duration of follow-up, and bone mineral density (BMD).MethodsThe resource comprised 906,359 women and men (66.9% female) from 46 prospective cohorts. Previous falls were uniformly defined as any fall occurring during the previous year in 43 cohorts; the remaining three cohorts had a different question construct. The association between previous falls and fracture risk (any clinical fracture, osteoporotic fracture, major osteoporotic fracture, and hip fracture) was examined using an extension of the Poisson regression model in each cohort and each sex, followed by random-effects meta-analyses of the weighted beta coefficients.ResultsFalls in the past year were reported in 21.4% of individuals. During a follow-up of 9,102,207 person-years, 87,352 fractures occurred of which 19,509 were hip fractures. A previous fall was associated with a significantly increased risk of any clinical fracture both in women (hazard ratio (HR) 1.42, 95% confidence interval (CI) 1.33–1.51) and men (HR 1.53, 95% CI 1.41–1.67). The HRs were of similar magnitude for osteoporotic, major osteoporotic fracture, and hip fracture. Sex significantly modified the association between previous fall and fracture risk, with predictive values being higher in men than in women (e.g., for major osteoporotic fracture, HR 1.53 (95% CI 1.27–1.84) in men vs. HR 1.32 (95% CI 1.20–1.45) in women, P for interaction = 0.013). The HRs associated with previous falls decreased with age in women and with duration of follow-up in men and women for most fracture outcomes. There was no evidence of an interaction between falls and BMD for fracture risk. Subsequent risk for a major osteoporotic fracture increased with each additional previous fall in women and men.ConclusionsA previous self-reported fall confers an increased risk of fracture that is largely independent of BMD. Previous falls should be considered as an additional risk factor in future iterations of FRAX to improve fracture risk prediction.
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| 64. |
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| 65. |
- Vila-Castelar, C., et al.
(author)
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Sex differences in blood biomarkers and cognitive performance in individuals with autosomal dominant Alzheimer's disease
- 2023
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In: Alzheimers & Dementia. - 1552-5260. ; 19:9, s. 4127-4138
-
Journal article (peer-reviewed)abstract
- INTRODUCTIONPlasma tau phosphorylated at threonine 217 (P-tau217) and neurofilament light (NfL) have emerged as markers of Alzheimer's disease (AD) pathology. Few studies have examined the role of sex in plasma biomarkers in sporadic AD, yielding mixed findings, and none in autosomal dominant AD. METHODSWe examined the effects of sex and age on plasma P-tau217 and NfL, and their association with cognitive performance in a cross-sectional study of 621 Presenilin-1 E280A mutation carriers (PSEN1) and non-carriers. RESULTSAs plasma P-tau217 levels increase, cognitively unimpaired female carriers showed better cognitive performance than cognitively unimpaired male carriers. Yet, as disease progresses, female carriers had a greater plasma NfL increase than male carriers. There were no sex differences in the association between age and plasma biomarkers among non-carriers. DISCUSSIONOur findings suggest that, among PSEN1 mutation carriers, females had a greater rate of neurodegeneration than males, yet it did not predict cognitive performance. HIGHLIGHTSWe examined sex differences in plasma P-tau217 and NfL in Presenilin-1 E280A (PSEN1) mutation carriers and non-carriers.Female carriers had a greater plasma NfL increase, but not P-tau217, than male carriers.As plasma P-tau217 levels increase, cognitively unimpaired female carriers showed better cognitive performance than cognitively unimpaired male carriers.The interaction effect of sex by plasma NfL levels did not predict cognition among carriers.
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| 66. |
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| 67. |
- Adrianto, Indra, et al.
(author)
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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
- 2011
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:3, s. 253-258
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Journal article (peer-reviewed)abstract
- Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 x 10(-8), odds ratio = 1.70) and Korean (P = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.
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| 68. |
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| 69. |
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| 70. |
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| 71. |
- Aspi, J, et al.
(author)
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Genetic diversity, population structure, effective population size and demographic history of the Finnish wolf population.
- 2006
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In: Mol Ecol. - 0962-1083. ; 15:6, s. 1561-76
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Journal article (peer-reviewed)abstract
- The Finnish wolf population (Canis lupus) was sampled during three different periods (1996-1998, 1999-2001 and 2002-2004), and 118 individuals were genotyped with 10 microsatellite markers. Large genetic variation was found in the population despite a recent demographic bottleneck. No spatial population subdivision was found even though a significant negative relationship between genetic relatedness and geographic distance suggested isolation by distance. Very few individuals did not belong to the local wolf population as determined by assignment analyses, suggesting a low level of immigration in the population. We used the temporal approach and several statistical methods to estimate the variance effective size of the population. All methods gave similar estimates of effective population size, approximately 40 wolves. These estimates were slightly larger than the estimated census size of breeding individuals. A Bayesian model based on Markov chain Monte Carlo simulations indicated strong evidence for a long-term population decline. These results suggest that the contemporary wolf population size is roughly 8% of its historical size, and that the population decline dates back to late 19th century or early 20th century. Despite an increase of over 50% in the census size of the population during the whole study period, there was only weak evidence that the effective population size during the last period was higher than during the first. This may be caused by increased inbreeding, diminished dispersal within the population, and decreased immigration to the population during the last study period.
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| 72. |
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| 73. |
- Björnerfeldt, S, et al.
(author)
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Assortative mating and fragmentation within dog breeds
- 2008
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In: BMC Evolutionary Biology. - : Springer Science and Business Media LLC. - 1471-2148. ; 8, s. 28-
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Journal article (peer-reviewed)abstract
- Background: There are around 400 internationally recognized dog breeds in the world today, with a remarkable diversity in size, shape, color and behavior. Breeds are considered to be uniform groups with similar physical characteristics, shaped by selection rooted in human preferences. This has led to a large genetic difference between breeds and a large extent of linkage disequilibrium within breeds. These characteristics are important for association mapping of candidate genes for diseases and therefore make dogs ideal models for gene mapping of human disorders. However, genetic uniformity within breeds may not always be the case. We studied patterns of genetic diversity within 164 poodles and compared it to 133 dogs from eight other breeds. Results: Our analyses revealed strong population structure within poodles, with differences among some poodle groups as pronounced as those among other well-recognized breeds. Pedigree analysis going three generations back in time confirmed that subgroups within poodles result from assortative mating imposed by breed standards as well as breeder preferences. Matings have not taken place at random or within traditionally identified size classes in poodles. Instead, a novel set of five poodle groups was identified, defined by combinations of size and color, which is not officially recognized by the kennel clubs. Patterns of genetic diversity in other breeds suggest that assortative mating leading to fragmentation may be a common feature within many dog breeds. Conclusion: The genetic structure observed in poodles is the result of local mating patterns, implying that breed fragmentation may be different in different countries. Such pronounced structuring within dog breeds can increase the power of association mapping studies, but also represents a serious problem if ignored. In dog breeding, individuals are selected on the basis of morphology, behaviour, working or show purposes, as well as geographic population structure.
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| 74. |
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| 75. |
- Brangari, Albert C., et al.
(author)
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Ecological and soil hydraulic implications of microbial responses to stress - A modeling analysis
- 2018
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In: Advances in Water Resources. - : Elsevier BV. - 0309-1708 .- 1872-9657. ; 116, s. 178-194
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Journal article (peer-reviewed)abstract
- A better understanding of microbial dynamics in porous media may lead to improvements in the design and management of a number of technological applications, ranging from the degradation of contaminants to the optimization of agricultural systems. To this aim, there is a recognized need for predicting the proliferation of soil microbial biomass (often organized in biofilms) under different environments and stresses. We present a general multi-compartment model to account for physiological responses that have been extensively reported in the literature. The model is used as an explorative tool to elucidate the ecological and soil hydraulic consequences of microbial responses, including the production of extracellular polymeric substances (EPS), the induction of cells into dormancy, and the allocation and reuse of resources between biofilm compartments. The mechanistic model is equipped with indicators allowing the microorganisms to monitor environmental and biological factors and react according to the current stress pressures. The feedbacks of biofilm accumulation on the soil water retention are also described. Model runs simulating different degrees of substrate and water shortage show that adaptive responses to the intensity and type of stress provide a clear benefit to microbial colonies. Results also demonstrate that the model may effectively predict qualitative patterns in microbial dynamics supported by empirical evidence, thereby improving our understanding of the effects of pore-scale physiological mechanisms on the soil macroscale phenomena.
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| 76. |
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| 77. |
- Cruz, F., et al.
(author)
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The legacy of domestication : Accumulation of deleterious mutations in the dog genome
- 2008
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In: Molecular biology and evolution. - : Oxford University Press (OUP). - 0737-4038 .- 1537-1719. ; 25:11, s. 2331-2336
-
Journal article (peer-reviewed)abstract
- Dogs exhibit more phenotypic variation than any other mammal and are affected by a wide variety of genetic diseases. However, the origin and genetic basis of this variation is still poorly understood. We examined the effect of domestication on the dog genome by comparison with its wild ancestor, the gray wolf. We compared variation in dog and wolf genes using whole-genome single nucleotide polymorphism (SNP) data. The d(N)/d(S) ratio (omega) was around 50% greater for SNPs found in dogs than in wolves, indicating that a higher proportion of nonsynonymous alleles segregate in dogs compared with nonfunctional genetic variation. We suggest that the majority of these alleles are slightly deleterious and that two main factors may have contributed to their increase. The first is a relaxation of selective constraint due to a population bottleneck and altered breeding patterns accompanying domestication. The second is a reduction of effective population size at loci linked to those under positive selection due to Hill-Robertson interference. An increase in slightly deleterious genetic variation could contribute to the prevalence of disease in modern dog breeds.
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| 78. |
- Darbieu, C., et al.
(author)
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Turbulence vertical structure of the boundary layer during the afternoon transition
- 2015
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In: Atmospheric Chemistry And Physics. - : Copernicus GmbH. - 1680-7316 .- 1680-7324. ; 15:17, s. 10071-10086
-
Journal article (peer-reviewed)abstract
- We investigate the decay of planetary boundary layer (PBL) turbulence in the afternoon, from the time the surface buoyancy flux starts to decrease until sunset. Dense observations of mean and turbulent parameters were acquired during the Boundary Layer Late Afternoon and Sunset Turbulence (BLLAST) field experiment by several meteorological surface stations, sounding balloons, radars, lidars and two aircraft during the afternoon transition. We analysed a case study based on some of these observations and large-eddy simulation (LES) data focusing on the turbulent vertical structure throughout the afternoon transition. The decay of turbulence is quantified through the temporal and vertical evolution of (1) the turbulence kinetic energy (TKE), (2) the characteristic length scales of turbulence and (3) the shape of the turbulence spectra. A spectral analysis of LES data, airborne and surface measurements is performed in order to characterize the variation in the turbulent decay with height and study the distribution of turbulence over eddy size. This study highlights the LES ability to reproduce the turbulence evolution throughout the afternoon. LESs and observations agree that the afternoon transition can be divided in two phases: (1) a first phase during which the TKE decays at a low rate, with no significant change in turbulence characteristics, and (2) a second phase characterized by a larger TKE decay rate and a change in spectral shape, implying an evolution of eddy size distribution and energy cascade from low to high wave number. The changes observed either in TKE decay (during the first phase) or in the vertical wind spectra shape (during the second phase of the afternoon transition) occur first in the upper region of the PBL. The higher within the PBL, the stronger the spectra shape changes.
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| 79. |
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| 80. |
- de Dios, E, et al.
(author)
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Similar Clinical Course and Significance of Circulating Innate and Adaptive Immune Cell Counts in STEMI and COVID-19
- 2020
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In: Journal of clinical medicine. - : MDPI AG. - 2077-0383. ; 9:11
-
Journal article (peer-reviewed)abstract
- This study aimed to assess the time course of circulating neutrophil and lymphocyte counts and their ratio (NLR) in ST-segment elevation myocardial infarction (STEMI) and coronavirus disease (COVID)-19 and explore their associations with clinical events and structural damage. Circulating neutrophil, lymphocyte and NLR were sequentially measured in 659 patients admitted for STEMI and in 103 COVID-19 patients. The dynamics detected in STEMI (within a few hours) were replicated in COVID-19 (within a few days). In both entities patients with events and with severe structural damage displayed higher neutrophil and lower lymphocyte counts. In both scenarios, higher maximum neutrophil and lower minimum lymphocyte counts were associated with more events and more severe organ damage. NLR was higher in STEMI and COVID-19 patients with the worst clinical and structural outcomes. A canonical deregulation of the immune response occurs in STEMI and COVID-19 patients. Boosted circulating innate (neutrophilia) and depressed circulating adaptive immunity (lymphopenia) is associated with more events and severe organ damage. A greater understanding of these critical illnesses is pivotal to explore novel alternative therapies.
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| 81. |
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| 82. |
- Discetti, S., et al.
(author)
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Characterization of very-large-scale motions in high-Re pipe flows
- 2019
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In: Experimental Thermal and Fluid Science. - : Elsevier. - 0894-1777 .- 1879-2286. ; , s. 1-8
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Journal article (peer-reviewed)abstract
- Very-large-scale structures in pipe flows are characterized using an extended Proper Orthogonal Decomposition (POD)-based estimation. Synchronized non-time-resolved Particle Image Velocimetry (PIV) and time-resolved, multi-point hot-wire measurements are integrated for the estimation of turbulent structures in a pipe flow at friction Reynolds numbers of 9500 and 20000. This technique enhances the temporal resolution of PIV, thus providing a time-resolved description of the dynamics of the large-scale motions. The experiments are carried out in the CICLoPE facility. A novel criterion for the statistical characterization of the large-scale motions is introduced, based on the time-resolved dynamically-estimated POD time coefficients. It is shown that high-momentum events are less persistent than low-momentum events, and tend to occur closer to the wall. These differences are further enhanced with increasing Reynolds number.
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| 83. |
- Esposito, Marco, 1965, et al.
(author)
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Vertical osseodistraction with a new intraosseous alveolar distractor prototype for dental implant rehabilitation: A pilot study in dogs
- 2017
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In: International Journal of Oral and Maxillofacial Implants. - : Quintessence Publishing. - 0882-2786. ; 32:4, s. 838-848
-
Journal article (peer-reviewed)abstract
- To evaluate in dogs a newly developed intraosseous alveolar distractor (Mozo-Grau Alveolar Distractor) for vertical bone augmentation to allow placement of dental implants. Materials and Methods: Four dogs had their posterior teeth removed, and sockets were left to heal for 20 weeks. The right and left sides of the posterior mandibles were randomly allocated, according to a split-mouth design, to receive either two distractors, distracting a 32-mm-long bone segment, or two distractors supporting one bony segment 20 mm long and one 8 mm long. Each side of the jaw was treated by a different operator. Eight days after placement, distractors were activated with one complete turn (corresponding to 0.75 mm of vertical distraction) per day for 8 days, followed by a latency period of 10 weeks. Distractors were removed, and seven dental implants of two randomly allocated designs were placed in each dog. Implants were submerged for 2 months, and the dogs were sacrificed. Outcome measures were: success of the augmentation procedure (defined as a vertical gain of at least 5 mm of bone), any complications, implant failure, bone-to-implant contact (BIC), and peri-implant marginal bone level changes. Results: One dog was withdrawn because of a mandible fracture. Eight complications occurred, and six osseodistractors were lost, but no implant failed. Only two segments in one dog achieved a vertical bone gain of at least 5 mm. The mean radiographic vertical bone gain was 2.28 mm, whereas the mean histologic vertical bone gain was 3.16 mm. Histologically, all the implants were osseointegrated. The mean BIC for implants placed in new distracted bone was 34.78% ± 11.60% and 35.66% ± 8.84% for those placed in native bone. The mean peri-implant marginal bone level loss was 0.56 ± 0.54 mm. Conclusion: It is possible to achieve vertical augmentation using intraosseous alveolar distractors to allow successful implantation of dental implants; however, the technique still requires surgical refinements and a dedicated training of the surgeons before being applied to humans. © 2017 by Quintessence Publishing Co Inc.
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| 84. |
- Fergelot, Patricia, et al.
(author)
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Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations
- 2016
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In: American Journal of Medical Genetics. Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 170:12, s. 3069-3082
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Journal article (peer-reviewed)abstract
- Rubinstein–Taybi syndrome (RSTS) is a developmental disorder characterized by a typical face and distal limbs abnormalities, intellectual disability, and a vast number of other features. Two genes are known to cause RSTS, CREBBP in 60% and EP300 in 8–10% of clinically diagnosed cases. Both paralogs act in chromatin remodeling and encode for transcriptional co-activators interacting with >400 proteins. Up to now 26 individuals with an EP300 mutation have been published. Here, we describe the phenotype and genotype of 42 unpublished RSTS patients carrying EP300 mutations and intragenic deletions and offer an update on another 10 patients. We compare the data to 308 individuals with CREBBP mutations. We demonstrate that EP300 mutations cause a phenotype that typically resembles the classical RSTS phenotype due to CREBBP mutations to a great extent, although most facial signs are less marked with the exception of a low-hanging columella. The limb anomalies are more similar to those in CREBBP mutated individuals except for angulation of thumbs and halluces which is very uncommon in EP300 mutated individuals. The intellectual disability is variable but typically less marked whereas the microcephaly is more common. All types of mutations occur but truncating mutations and small rearrangements are most common (86%). Missense mutations in the HAT domain are associated with a classical RSTS phenotype but otherwise no genotype–phenotype correlation is detected. Pre-eclampsia occurs in 12/52 mothers of EP300 mutated individuals versus in 2/59 mothers of CREBBP mutated individuals, making pregnancy with an EP300 mutated fetus the strongest known predictor for pre-eclampsia.
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| 85. |
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| 86. |
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| 87. |
- González-De Schroeder, María Mercedes, et al.
(author)
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Vigilancia ambiental de la circulación de poliovirus en tres municipios considerados como punto transitorio de migrantes en Colombia 2017-2019
- 2022
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In: Infectio. - : Asociacion Colombiana de Infectologia - ACIN. - 0123-9392 .- 2422-3794. ; 26:2, s. 107-112
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Journal article (peer-reviewed)abstract
- Objective: To determine the circulation of poliovirus in three municipalities considered as transitory points for migrants in Colombia. Material and Method: Wastewater samples (n = 36) were collected from border municipalities, selected for greater transit of regular and irregular migrants, in the period between 2017-2019. The samples were concentrated and cultured following the World Health Organization (WHO) environmental surveillance algorithm for poliovirus circulation. Molecular identification was performed by polymerase chain reaction using group-specific, serotype and sabin vaccine strain primers. Results: The presence of non-polio Enterovirus (NPV) was detected in the environmental samples obtained and no circulation of poliovirus derived from the vaccine or wild poliovirus was found in the three evaluated municipalities; However, in two previous studies published by Gonzales et al with a similar methodology in 2005 and 2015 evaluating the wastewater of the city of Armenia-Quindío; It was possible to identify the presence of virus derived from vaccine, with negative results for the identification of wild poliovirus. Conclusions: The findings indicate that the wastewater monitoring system in order to determine the presence of viruses is a useful tool to carry out environmental surveillance.
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| 88. |
- González, María Mercedes, et al.
(author)
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Environmental surveillance of polioviruses in armenia, Colombia before trivalent oral polio vaccine cessation
- 2019
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In: Viruses. - : MDPI AG. - 1999-4915. ; 11:9
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Journal article (peer-reviewed)abstract
- Although acute flaccid paralysis (AFP) surveillance is the “gold standard” for detecting cases of polio, environmental surveillance can provide supplementary information in the absence of paralytic poliomyelitis cases. This study aimed to detect the introduction and/or circulation of wild poliovirus or vaccine-derived polioviruses (VDPV) in wastewater, covering a significant population of Armenia, Colombia, before trivalent oral polio vaccine (OPV) cessation. Between March and September 2015, 24 wastewater samples were collected from eight study sites in eight communes of Armenia, Colombia. Virus detection and characterization were performed using both cell culture (i.e., RD or L20B cells) and RT-PCR. Polioviruses were isolated in 11 (45.8%) of 24 wastewater samples. All isolates were identified as Sabin strains (type 1 = 9, type 3 = 2) by intratypic differentiation. Type 2 poliovirus was not detected in any of the samples. No wild poliovirus or VDPV was detected among the isolates. Non-polio enterovirus was identified in 8.3% (2/24) of the samples. This study revealed the excretion of Sabin poliovirus from OPV-immunized individuals, as well as the absence of VDPV and wild poliovirus in wastewaters of Armenia, Colombia. This confirms that environmental surveillance is an effective method, as an additional support to AFP surveillance, to monitor poliovirus during the OPV-to-IPV (inactivated polio vaccine) transition period.
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| 89. |
- Gonzalez-Varo, Juan P., et al.
(author)
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Combined effects of global change pressures on animal-mediated pollination
- 2013
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In: Trends in Ecology & Evolution. - : Elsevier BV. - 1872-8383 .- 0169-5347. ; 28:9, s. 524-530
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Journal article (peer-reviewed)abstract
- Pollination is an essential process in the sexual reproduction of seed plants and a key ecosystem service to human welfare. Animal pollinators decline as a consequence of five major global change pressures: climate change, landscape alteration, agricultural intensification, non-native species, and spread of pathogens. These pressures, which differ in their biotic or abiotic nature and their spatiotemporal scales, can interact in nonadditive ways (synergistically or antagonistically), but are rarely considered together in studies of pollinator and/or pollination decline. Management actions aimed at buffering the impacts of a particular pressure could thereby prove ineffective if another pressure is present. Here, we focus on empirical evidence of the combined effects of global change pressures on pollination, highlighting gaps in current knowledge and future research needs.
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| 90. |
- Gonzalez-Voyer, A., et al.
(author)
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Correlates of species richness in the largest Neotropical amphibian radiation
- 2011
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In: Journal of Evolutionary Biology. - : Wiley. - 1010-061X .- 1420-9101. ; 24:5, s. 931-942
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Journal article (peer-reviewed)abstract
- Although tropical environments are often considered biodiversity hotspots, it is precisely in such environments where least is known about the factors that drive species richness. Here, we use phylogenetic comparative analyses to study correlates of species richness for the largest Neotropical amphibian radiation: New World direct-developing frogs. Clade-age and species richness were nonsignficantly, negatively correlated, suggesting that clade age alone does not explain among-clade variation in species richness. A combination of ecological and morphological traits explained 65% of the variance in species richness. A more vascularized ventral skin, the ability to colonize high-altitude ranges, encompassing a large variety of vegetation types, correlated significantly with species richness, whereas larger body size was marginally correlated with species richness. Hence, whereas high-altitude ranges play a role in shaping clade diversity in the Neotropics, intrinsic factors, such as skin structures and possibly body size, might ultimately determine which clades are more speciose than others.
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| 91. |
- Grau-Rivera, O., et al.
(author)
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Association of weight change with cerebrospinal fluid biomarkers and amyloid positron emission tomography in preclinical Alzheimer's disease
- 2021
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In: Alzheimer's Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 13:1
-
Journal article (peer-reviewed)abstract
- BackgroundRecognizing clinical manifestations heralding the development of Alzheimer's disease (AD)-related cognitive impairment could improve the identification of individuals at higher risk of AD who may benefit from potential prevention strategies targeting preclinical population. We aim to characterize the association of body weight change with cognitive changes and AD biomarkers in cognitively unimpaired middle-aged adults.MethodsThis prospective cohort study included data from cognitively unimpaired adults from the ALFA study (n=2743), a research platform focused on preclinical AD. Cognitive and anthropometric data were collected at baseline between April 2013 and November 2014. Between October 2016 and February 2020, 450 participants were visited in the context of the nested ALFA+ study and underwent cerebrospinal fluid (CSF) extraction and acquisition of positron emission tomography images with [F-18]flutemetamol (FTM-PET). From these, 408 (90.1%) were included in the present study. We used data from two visits (average interval 4.1years) to compute rates of change in weight and cognitive performance. We tested associations between these variables and between weight change and categorical and continuous measures of CSF and neuroimaging AD biomarkers obtained at follow-up. We classified participants with CSF data according to the AT (amyloid, tau) system and assessed between-group differences in weight change.ResultsWeight loss predicted a higher likelihood of positive FTM-PET visual read (OR 1.27, 95% CI 1.00-1.61, p=0.049), abnormal CSF p-tau levels (OR 1.50, 95% CI 1.19-1.89, p=0.001), and an A+T+ profile (OR 1.64, 95% CI 1.25-2.20, p=0.001) and was greater among participants with an A+T+ profile (p<0.01) at follow-up. Weight change was positively associated with CSF A42/40 ratio (beta =0.099, p=0.032) and negatively associated with CSF p-tau (beta=-0.141, p=0.005), t-tau (beta=-0.147 p=0.004) and neurogranin levels (beta=-0.158, p=0.002). In stratified analyses, weight loss was significantly associated with higher t-tau, p-tau, neurofilament light, and neurogranin, as well as faster cognitive decline in A+ participants only.ConclusionsWeight loss predicts AD CSF and PET biomarker results and may occur downstream to amyloid-beta accumulation in preclinical AD, paralleling cognitive decline. Accordingly, it should be considered as an indicator of increased risk of AD-related cognitive impairment.Trial registrationNCT01835717, NCT02485730, NCT02685969.
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| 92. |
- Guemes, A., et al.
(author)
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Flow organization in the wake of a rib in a turbulent boundary layer with pressure gradient
- 2019
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In: Experimental Thermal and Fluid Science. - : ELSEVIER SCIENCE INC. - 0894-1777 .- 1879-2286. ; 108, s. 115-124
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Journal article (peer-reviewed)abstract
- The effect of a streamwise pressure gradient on the wake developed by wall-attached square ribs in a turbulent boundary layer is investigated experimentally. Favourable-, adverse- and zero-pressure-gradient conditions (FPG, APG and ZPG, respectively) are reproduced at matched friction Reynolds number and non-dimensional rib height. Flow-field measurements are carried out by means of Particle Image Velocimetry (PIV). Turbulence statistics are extracted at high resolution using an Ensemble Particle Tracking Velocimetry approach. Modal analysis is performed with Proper Orthogonal Decomposition (POD). We demonstrate that a non-dimensional expression of the pressure gradient and shear stress is needed to quantify the pressure-gradient effects in the wake developing past wall-attached ribs. We suggest the Clauser pressure-gradient parameter beta, commonly used in the literature for the characterization of turbulent boundary layers under the effect of a pressure gradient, as a suitable parameter. The results show that, in presence of an adverse pressure gradient, the recirculation region downstream of the rib is increased in size, thus delaying the reattachment, and that the peak of turbulence intensity and the shed eddies are shifted towards larger wall-normal distances than in the ZPG case. The observed changes with respect to the ZPG configuration appear more intense for larger magnitude of beta, which are more likely to be obtained in APG than in FPG due to the reduced skin friction and increased displacement thickness.
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| 93. |
- Hailer, Frank, et al.
(author)
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Bottlenecked but long-lived : high genetic diversity retained in white-tailed eagles upon recovery from population decline
- 2006
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In: Biology Letters. - : The Royal Society. - 1744-9561 .- 1744-957X. ; 2:2, s. 316-319
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Journal article (peer-reviewed)abstract
- Most of the white-tailed eagle (Haliaeetus albicilla) populations in Europe experienced dramatic declines during the twentieth century. However, owing to intense conservation actions and the ban of DDT and other persistent pollutants, populations are currently recovering. We show that despite passing through demographic bottlenecks, white-tailed eagle populations have retained significant levels of genetic diversity. Both genetic and ringing data indicate that migration between populations has not been a major factor for the maintenance of genetic variability. We argue that the long generation time of eagles has acted as an intrinsic buffer against loss of genetic diversity, leading to a shorter effective time of the experienced bottleneck. Notably, conservation actions taken in several small sub-populations have ensured the preservation of a larger proportion of the total genetic diversity than if conservation had focused on the population stronghold in Norway. For conservation programmes targeting other endangered, long-lived species, our results highlight the possibility for local retention of high genetic diversity in isolated remnant populations.
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| 94. |
- Hailer, Frank, 1976-
(author)
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Conservation Genetics of the White-Tailed Eagle
- 2006
-
Doctoral thesis (other academic/artistic)abstract
- The white-tailed eagle is a formerly threatened raptor that is commonly used as a flagship and indicator species in conservation work. This thesis uses molecular genetic methods to study sex determination of nestlings, genetic variability, population structure and phylogeography of the white-tailed eagle.Fourteen microsatellite markers were developed and tested for the white-tailed eagle.A method to sex white-tailed eagle nestlings in the field is presented. The method is based on just one tarsus measure, and is suitable for situations where a single person is handling the nestlings alone in a treetop.Most European white-tailed eagle populations underwent extreme declines during the 20th century. The results presented here show that bottlenecked populations have maintained significant levels of genetic diversity. Gene flow between regions is not a main explanation for this, as indicated by both genetic and ringing data. Instead, the long generation time of white-tailed eagles has acted as an intrinsic buffer against rapid loss of genetic diversity. Additionally, local conservation led to protection of more genetic diversity than if conservation had focused on the large remnant population in Norway.Mitochondrial DNA of white-tailed eagles is structured in two main clades with a predominantly eastern and western Eurasian distribution. The clades likely correspond to separate Ice Age refugia but do not grant classification as evolutionary significant units given their current extensive overlap across large parts of Eurasia.Microsatellite variation was studied in populations across Eurasia. Variability was rather constant across the continent, but clearly lower on Iceland and Greenland. This is best explained by founder effects during their colonisation, but only weak bottlenecks during colonisation of and persistence on the continent. Current population differentiation between Europe and eastern Eurasia is not compatible with a zero gene flow model but requires some amount of gene flow over evolutionary time scales.
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| 95. |
- Hailer, Frank, et al.
(author)
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Phylogeography of the white-tailed eagle, a generalist with large dispersal capacity
- 2007
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In: Journal of Biogeography. - : Wiley. - 0305-0270 .- 1365-2699. ; 34:7, s. 1193-1206
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Journal article (peer-reviewed)abstract
- Aim Late Pleistocene glacial changes had a major impact on many boreal and temperate taxa, and this impact can still be detected in the present-day phylogeographic structure of these taxa. However, only minor effects are expected in species with generalist habitat requirements and high dispersal capability. One such species is the white-tailed eagle, Haliaeetus albicilla, and we therefore tested for the expected weak population structure at a continental level in this species. This also allowed us to describe phylogeographic patterns, and to deduce Ice Age refugia and patterns of postglacial recolonization of Eurasia. Location Breeding populations from the easternmost Nearctic (Greenland) and across the Palaearctic (Iceland, continental Europe, central and eastern Asia, and Japan). Methods Sequencing of a 500 base-pair fragment of the mitochondrial DNA control region in 237 samples from throughout the distribution range. Results Our analysis revealed pronounced phylogeographic structure. Overall, low genetic variability was observed across the entire range. Haplotypes clustered in two distinct haplogroups with a predominantly eastern or western distribution, and extensive overlap in Europe. These two major lineages diverged during the late Pleistocene. The eastern haplogroup showed a pattern of rapid population expansion and colonization of Eurasia around the end of the Pleistocene. The western haplogroup had lower diversity and was absent from the populations in eastern Asia. These results suggest survival during the last glaciation in two refugia, probably located in central and western Eurasia, followed by postglacial population expansion and admixture. Relatively high genetic diversity was observed in northern regions that were ice-covered during the last glacial maximum. This, and phylogenetic relationships between haplotypes encountered in the north, indicates substantial population expansion at high latitudes. Areas of glacial meltwater runoff and proglacial lakes could have provided suitable habitats for such population growth. Main conclusions This study shows that glacial climate fluctuations had a substantial impact on white-tailed eagles, both in terms of distribution and demography. These results suggest that even species with large dispersal capabilities and relatively broad habitat requirements were strongly affected by the Pleistocene climatic shifts.
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| 96. |
- Harley, Isaac T. W., et al.
(author)
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The Role of Genetic Variation Near Interferon-Kappa in Systemic Lupus Erythematosus
- 2010
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In: Journal of Biomedicine and Biotechnology. - : Hindawi Limited. - 1110-7243 .- 1110-7251. ; , s. 706825-
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Journal article (peer-reviewed)abstract
- Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by increased type I interferons (IFNs) and multiorgan inflammation frequently targeting the skin. IFN-kappa is a type I IFN expressed in skin. A pooled genome-wide scan implicated the IFNK locus in SLE susceptibility. We studied IFNK single nucleotide polymorphisms (SNPs) in 3982 SLE cases and 4275 controls, composed of European (EA), African-American (AA), and Asian ancestry. rs12553951C was associated with SLE in EA males (odds ratio = 1.93, P = 2.5 x 10(-4)), but not females. Suggestive associations with skin phenotypes in EA and AA females were found, and these were also sex-specific. IFNK SNPs were associated with increased serum type I IFN in EA and AA SLE patients. Our data suggest a sex-dependent association between IFNK SNPs and SLE and skin phenotypes. The serum IFN association suggests that IFNK variants could influence type I IFN producing plasmacytoid dendritic cells in affected skin.
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| 97. |
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| 98. |
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| 99. |
- Johannsson, Gudmundur, 1960, et al.
(author)
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Long-Term Safety of Growth Hormone in Adults With Growth Hormone Deficiency: Overview of 15 809 GH-Treated Patients
- 2022
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In: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 107:7, s. 1906-1919
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Journal article (peer-reviewed)abstract
- Context Data on long-term safety of growth hormone (GH) replacement in adults with GH deficiency (GHD) are needed. Objective We aimed to evaluate the safety of GH in the full KIMS (Pfizer International Metabolic Database) cohort. Methods The worldwide, observational KIMS study included adults and adolescents with confirmed GHD. Patients were treated with GH (Genotropin [somatropin]; Pfizer, NY) and followed through routine clinical practice. Adverse events (AEs) and clinical characteristics (eg, lipid profile, glucose) were collected. Results A cohort of 15 809 GH-treated patients were analyzed (mean follow-up of 5.3 years). AEs were reported in 51.2% of patients (treatment-related in 18.8%). Crude AE rate was higher in patients who were older, had GHD due to pituitary/hypothalamic tumors, or adult-onset GHD. AE rate analysis adjusted for age, gender, etiology, and follow-up time showed no correlation with GH dose. A total of 606 deaths (3.8%) were reported (146 by neoplasms, 71 by cardiac/vascular disorders, 48 by cerebrovascular disorders). Overall, de novo cancer incidence was comparable to that in the general population (standard incidence ratio 0.92; 95% CI, 0.83-1.01). De novo cancer risk was significantly lower in patients with idiopathic/congenital GHD (0.64; 0.43-0.91), but similar in those with pituitary/hypothalamic tumors or other etiologies versus the general population. Neither adult-onset nor childhood-onset GHD was associated with increased de novo cancer risks. Neutral effects were observed in lipids/fasting blood glucose levels. Conclusion These final KIMS cohort data support the safety of long-term GH replacement in adults with GHD as prescribed in routine clinical practice.
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| 100. |
- Kottyan, Leah C., et al.
(author)
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The IRF5-TNPO3 association with systemic lupus erythematosus has two components that other autoimmune disorders variably share.
- 2015
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 24:2, s. 582-596
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Journal article (peer-reviewed)abstract
- Exploiting genotyping, DNA sequencing, imputation and trans-ancestral mapping, we used Bayesian and frequentist approaches to model the IRF5-TNPO3 locus association, now implicated in two immunotherapies and seven autoimmune diseases. Specifically, in systemic lupus erythematosus (SLE), we resolved separate associations in the IRF5 promoter (all ancestries) and with an extended European haplotype. We captured 3230 IRF5-TNPO3 high-quality, common variants across 5 ethnicities in 8395 SLE cases and 7367 controls. The genetic effect from the IRF5 promoter can be explained by any one of four variants in 5.7 kb (P-valuemeta = 6 × 10(-49); OR = 1.38-1.97). The second genetic effect spanned an 85.5-kb, 24-variant haplotype that included the genes IRF5 and TNPO3 (P-valuesEU = 10(-27)-10(-32), OR = 1.7-1.81). Many variants at the IRF5 locus with previously assigned biological function are not members of either final credible set of potential causal variants identified herein. In addition to the known biologically functional variants, we demonstrated that the risk allele of rs4728142, a variant in the promoter among the lowest frequentist probability and highest Bayesian posterior probability, was correlated with IRF5 expression and differentially binds the transcription factor ZBTB3. Our analytical strategy provides a novel framework for future studies aimed at dissecting etiological genetic effects. Finally, both SLE elements of the statistical model appear to operate in Sjögrens syndrome and systemic sclerosis whereas only the IRF5-TNPO3 gene-spanning haplotype is associated with primary biliary cirrhosis, demonstrating the nuance of similarity and difference in autoimmune disease risk mechanisms at IRF5-TNPO3.
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