| 1. |
- Assimes, Themistocles L., et al.
(författare)
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Lack of Association Between the Trp719Arg Polymorphism in Kinesin-Like Protein-6 and Coronary Artery Disease in 19 Case-Control Studies
- 2010
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097. ; 56:19, s. 1552-1563
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Tidskriftsartikel (refereegranskat)abstract
- Objectives We sought to replicate the association between the kinesin-like protein 6 (KIF6) Trp719Arg polymorphism (rs20455), and clinical coronary artery disease (CAD). Background Recent prospective studies suggest that carriers of the 719Arg allele in KIF6 are at increased risk of clinical CAD compared with noncarriers. Methods The KIF6 Trp719Arg polymorphism (rs20455) was genotyped in 19 case-control studies of nonfatal CAD either as part of a genome-wide association study or in a formal attempt to replicate the initial positive reports. Results A total of 17,000 cases and 39,369 controls of European descent as well as a modest number of South Asians, African Americans, Hispanics, East Asians, and admixed cases and controls were successfully genotyped. None of the 19 studies demonstrated an increased risk of CAD in carriers of the 719Arg allele compared with noncarriers. Regression analyses and fixed-effects meta-analyses ruled out with high degree of confidence an increase of >= 2% in the risk of CAD among European 719Arg carriers. We also observed no increase in the risk of CAD among 719Arg carriers in the subset of Europeans with early-onset disease (younger than 50 years of age for men and younger than 60 years of age for women) compared with similarly aged controls as well as all non-European subgroups. Conclusions The KIF6 Trp719Arg polymorphism was not associated with the risk of clinical CAD in this large replication study. (J Am Coll Cardiol 2010;56:1552-63) (C) 2010 by the American College of Cardiology Foundation
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| 2. |
- Schunkert, Heribert, et al.
(författare)
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Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
- 2011
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 43:4, s. 153-333
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Tidskriftsartikel (refereegranskat)abstract
- We performed a meta-analysis of 14 genome-wide association studies of coronary artery disease (CAD) comprising 22,233 individuals with CAD (cases) and 64,762 controls of European descent followed by genotyping of top association signals in 56,682 additional individuals. This analysis identified 13 loci newly associated with CAD at P < 5 x 10(-8) and confirmed the association of 10 of 12 previously reported CAD loci. The 13 new loci showed risk allele frequencies ranging from 0.13 to 0.91 and were associated with a 6% to 17% increase in the risk of CAD per allele. Notably, only three of the new loci showed significant association with traditional CAD risk factors and the majority lie in gene regions not previously implicated in the pathogenesis of CAD. Finally, five of the new CAD risk loci appear to have pleiotropic effects, showing strong association with various other human diseases or traits.
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| 3. |
- Zamora, Juan Carlos, et al.
(författare)
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Considerations and consequences of allowing DNA sequence data as types of fungal taxa
- 2018
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Ingår i: IMA Fungus. - : INT MYCOLOGICAL ASSOC. - 2210-6340 .- 2210-6359. ; 9:1, s. 167-185
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Tidskriftsartikel (refereegranskat)abstract
- Nomenclatural type definitions are one of the most important concepts in biological nomenclature. Being physical objects that can be re-studied by other researchers, types permanently link taxonomy (an artificial agreement to classify biological diversity) with nomenclature (an artificial agreement to name biological diversity). Two proposals to amend the International Code of Nomenclature for algae, fungi, and plants (ICN), allowing DNA sequences alone (of any region and extent) to serve as types of taxon names for voucherless fungi (mainly putative taxa from environmental DNA sequences), have been submitted to be voted on at the 11th International Mycological Congress (Puerto Rico, July 2018). We consider various genetic processes affecting the distribution of alleles among taxa and find that alleles may not consistently and uniquely represent the species within which they are contained. Should the proposals be accepted, the meaning of nomenclatural types would change in a fundamental way from physical objects as sources of data to the data themselves. Such changes are conducive to irreproducible science, the potential typification on artefactual data, and massive creation of names with low information content, ultimately causing nomenclatural instability and unnecessary work for future researchers that would stall future explorations of fungal diversity. We conclude that the acceptance of DNA sequences alone as types of names of taxa, under the terms used in the current proposals, is unnecessary and would not solve the problem of naming putative taxa known only from DNA sequences in a scientifically defensible way. As an alternative, we highlight the use of formulas for naming putative taxa (candidate taxa) that do not require any modification of the ICN.
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| 4. |
- Berger, Josef S., et al.
(författare)
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Landscape configuration affects herbivore–parasitoid communities in oilseed rape
- 2018
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Ingår i: Journal of Pest Science. - : Springer Science and Business Media LLC. - 1612-4758 .- 1612-4766. ; 91:3, s. 1093-1105
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Tidskriftsartikel (refereegranskat)abstract
- It is crucial to consider the effects of large-scale drivers on species presences and ecological interactions to understand what structures communities. In our study, we investigated how the species composition and the potential interaction networks of herbivore and parasitoid communities in oilseed rape fields are affected by agricultural landscape characteristics. Insect communities of 26 winter oilseed rape fields in southern Sweden were captured in water traps over a continuous time span of 30 ± 2 days. In total, 31% of the variation in the composition of herbivore host communities was explained by a combination of the surrounding oilseed rape area in the study year and the previous year and distance to the nearest forest. The oilseed rape area in the study year and distance to forest also explained 14% of the variation in the composition of parasitoid communities. Distance to the nearest forest together with the area of oilseed rape in the previous year explained 45% of the variation in asymmetry of interaction webs. These results indicate that several measures of landscape configuration are important both for the composition of host and parasitoid communities and also for the structure of interaction networks. Our results support the view that it is an appropriate strategy to cultivate oilseed rape in landscapes that are far away from forests, in order to minimize recolonization by pest species and at the same time to attract parasitoid species from the open landscape.
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| 5. |
- Helgadottir, Anna, et al.
(författare)
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Apolipoprotein(a) Genetic Sequence Variants Associated With Systemic Atherosclerosis and Coronary Atherosclerotic Burden But Not With Venous Thromboembolism
- 2012
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Ingår i: Journal of the American College of Cardiology. - : Elsevier BV. - 0735-1097 .- 1558-3597. ; 60:8, s. 722-729
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Tidskriftsartikel (refereegranskat)abstract
- Objectives The purpose of this study is investigate the effects of variants in the apolipoprotein(a) gene (LPA) on vascular diseases with different atherosclerotic and thrombotic components. Background It is unclear whether the LPA variants rs10455872 and rs3798220, which correlate with lipoprotein(a) levels and coronary artery disease (CAD), confer susceptibility predominantly via atherosclerosis or thrombosis. Methods The 2 LPA variants were combined and examined as LPA scores for the association with ischemic stroke (and TOAST [Trial of Org 10172 in Acute Stroke Treatment] subtypes) (effective sample size [n(e)] = 9,396); peripheral arterial disease (n(e) = 5,215); abdominal aortic aneurysm (ne = 4,572); venous thromboembolism (ne = 4,607); intracranial aneurysm (ne = 1,328); CAD (n(e) = 12,716), carotid intima-media thickness (n = 3,714), and angiographic CAD severity (n = 5,588). Results LPA score was associated with ischemic stroke subtype large artery atherosclerosis (odds ratio [OR]: 1.27; p = 6.7 X 10(-4)), peripheral artery disease (OR: 1.47; p = 2.9 x 10(-14)), and abdominal aortic aneurysm (OR: 1.23; p = 6.0 x 10(-5)), but not with the ischemic stroke subtypes cardioembolism (OR: 1.03; p = 0.69) or small vessel disease (OR: 1.06; p = 0.52). Although the LPA variants were not associated with carotid intima-media thickness, they were associated with the number of obstructed coronary vessels (p = 4.8 x 10(-12)). Furthermore, CAD cases carrying LPA risk variants had increased susceptibility to atherosclerotic manifestations outside of the coronary tree (OR: 1.26; p = 0.0010) and had earlier onset of CAD (-1.58 years/allele; p = 8.2 x 10(-8)) than CAD cases not carrying the risk variants. There was no association of LPA score with venous thromboembolism (OR: 0.97; p = 0.63) or intracranial aneurysm (OR: 0.85; p = 0.15). Conclusions LPA sequence variants were associated with atherosclerotic burden, but not with primarily thrombotic phenotypes. (J Am Coll Cardiol 2012; 60: 722-9) (C) 2012 by the American College of Cardiology Foundation
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| 6. |
- Kühnel, Line, et al.
(författare)
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Disease Progression in Multiple System Atrophy—Novel Modeling Framework and Predictive Factors
- 2022
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Ingår i: Movement Disorders. - : Wiley. - 0885-3185 .- 1531-8257. ; 37:8, s. 1719-1727
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Tidskriftsartikel (refereegranskat)abstract
- Background: Multiple system atrophy (MSA) is a rare and aggressive neurodegenerative disease that typically leads to death 6 to 10 years after symptom onset. The rapid evolution renders it crucial to understand the general disease progression and factors affecting the disease course. Objectives: The aims of this study were to develop a novel disease-progression model to estimate a population-level MSA progression trajectory and predict patient-specific continuous disease stages describing the degree of progress into the disease. Methods: The disease-progression model estimated a population-level progression trajectory of subscales of the Unified MSA Rating Scale and the Unified Parkinson's Disease Rating Scale using patients in the European MSA natural history study. The predicted disease continuum was validated via multiple analyses based on reported anchor points, and the effect of MSA subtype on the rate of disease progression was evaluated. Results: The predicted disease continuum spanned approximately 6 years, with an estimated average duration of 51 months for a patient with global disability score 0 to reach the highest level of 4. The predicted continuous disease stages were shown to be correlated with time of symptom onset and predictive of survival time. MSA motor subtype was found to significantly affect disease progression, with MSA-parkinsonian (MSA-P) type patients having an accelerated rate of progression. Conclusions: The proposed modeling framework introduces a new method of analyzing and interpreting the progression of MSA. It can provide new insights and opportunities for investigating covariate effects on the rate of progression and provide well-founded predictions of patient-level future progressions.
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| 7. |
- Lubin, Yael, et al.
(författare)
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Limited male dispersal in a social spider with extreme inbreeding
- 2009
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Ingår i: Biological Journal of the Linnean Society. - : Oxford University Press (OUP). - 0024-4066 .- 1095-8312. ; 97:2, s. 227-234
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Tidskriftsartikel (refereegranskat)abstract
- Cooperatively breeding animals commonly avoid incestuous mating through pre-mating dispersal. However, a few group-living organisms, including the social spiders, have low pre-mating dispersal, intra-colony mating, and inbreeding. This results in limited gene flow among colonies and sub-structured populations. The social spiders also exhibit female-biased sex ratios because survival benefits to large colonies favour high group productivity, which selects against 1 : 1 sex ratios. Although propagule dispersal of mated females may occasionally bring about limited gene flow, little is known about the role of male dispersal. We assessed the extent of male movement between colonies in natural populations both experimentally and by studying colony sex ratios over the mating season. We show that males frequently move to neighbouring colonies, whereas only 4% of incipient nests were visited by dispersing males. Neighbouring colonies are genetically similar and movement within colony clusters does not contribute to gene flow. Post-mating sex ratio bias was high early in the mating season due to protandry, and also in colonies at the end of the season, suggesting that males remain in the colony when mated females have dispersed. Thus, male dispersal is unlikely to facilitate gene flow between different matrilineages. This is consistent with models of non-Fisherian group-level selection for the maintenance of female biased sex ratios, which predict the elimination of male dispersal.
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| 8. |
- Malik, Rainer, et al.
(författare)
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Low-frequency and common genetic variation in ischemic stroke : The METASTROKE collaboration
- 2016
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Ingår i: Neurology. - 1526-632X. ; 86:13, s. 26-1217
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate the influence of common and low-frequency genetic variants on the risk of ischemic stroke (all IS) and etiologic stroke subtypes.METHODS: We meta-analyzed 12 individual genome-wide association studies comprising 10,307 cases and 19,326 controls imputed to the 1000 Genomes (1 KG) phase I reference panel. We selected variants showing the highest degree of association (p < 1E-5) in the discovery phase for replication in Caucasian (13,435 cases and 29,269 controls) and South Asian (2,385 cases and 5,193 controls) samples followed by a transethnic meta-analysis. We further investigated the p value distribution for different bins of allele frequencies for all IS and stroke subtypes.RESULTS: We showed genome-wide significance for 4 loci: ABO for all IS, HDAC9 for large vessel disease (LVD), and both PITX2 and ZFHX3 for cardioembolic stroke (CE). We further refined the association peaks for ABO and PITX2. Analyzing different allele frequency bins, we showed significant enrichment in low-frequency variants (allele frequency <5%) for both LVD and small vessel disease, and an enrichment of higher frequency variants (allele frequency 10% and 30%) for CE (all p < 1E-5).CONCLUSIONS: Our findings suggest that the missing heritability in IS subtypes can in part be attributed to low-frequency and rare variants. Larger sample sizes are needed to identify the variants associated with all IS and stroke subtypes.
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| 9. |
- Rahimi, Jaber, et al.
(författare)
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Modeling gas exchange and biomass production in West African Sahelian and Sudanian ecological zones
- 2021
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Ingår i: Geoscientific Model Development. - : Copernicus GmbH. - 1991-959X .- 1991-9603. ; 14:6, s. 3789-3812
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Tidskriftsartikel (refereegranskat)abstract
- West African Sahelian and Sudanian ecosystems provide essential services to people and also play a significant role within the global carbon cycle. However, climate and land use are dynamically changing, and uncertainty remains with respect to how these changes will affect the potential of these regions to provide food and fodder resources or how they will affect the biosphere-atmosphere exchange of CO2. In this study, we investigate the capacity of a process-based biogeochemical model, LandscapeDNDC, to simulate net ecosystem exchange (NEE) and aboveground biomass of typical managed and natural Sahelian and Sudanian savanna ecosystems. In order to improve the simulation of phenology, we introduced soil-water availability as a common driver of foliage development and productivity for all of these systems. The new approach was tested by using a sample of sites (calibration sites) that provided NEE from flux tower observations as well as leaf area index data from satellite images (MODIS, MODerate resolution Imaging Spectroradiometer). For assessing the simulation accuracy, we applied the calibrated model to 42 additional sites (validation sites) across West Africa for which measured aboveground biomass data were available. The model showed good performance regarding biomass of crops, grass, or trees, yielding correlation coefficients of 0.82, 0.94, and 0.77 and root-mean-square errors of 0.15, 0.22, and 0.12gkggm-2, respectively. The simulations indicate aboveground carbon stocks of up to 0.17, 0.33, and 0.54gkggCgha-1gm-2 for agricultural, savanna grasslands, and savanna mixed tree-grassland sites, respectively. Carbon stocks and exchange rates were particularly correlated with the abundance of trees, and grass biomass and crop yields were higher under more humid climatic conditions. Our study shows the capability of LandscapeDNDC to accurately simulate carbon balances in natural and agricultural ecosystems in semiarid West Africa under a wide range of conditions; thus, the model could be used to assess the impact of land-use and climate change on the regional biomass productivity.
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| 10. |
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