| 1. |
- D'Aniello, Salvatore, et al.
(författare)
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Opsin evolution in the Ambulacraria
- 2015
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Ingår i: Marine Genomics. - : Elsevier BV. - 1874-7787 .- 1876-7478.
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Tidskriftsartikel (refereegranskat)abstract
- Opsins — G-protein coupled receptors involved in photoreception — have been extensively studied in the animal kingdom. The present work provides new insights into opsin-based photoreception and photoreceptor cell evo- lution with a first analysis of opsin sequence data for a major deuterostome clade, the Ambulacraria. Systematic data analysis, including for the first time hemichordate opsin sequences and an expanded echinoderm dataset, led to a robust opsin phylogeny for this cornerstone superphylum. Multiple genomic and transcriptomic resources were surveyed to cover each class of Hemichordata and Echinodermata. In total, 119 ambulacrarian opsin sequences were found, 22 new sequences in hemichordates and 97 in echinoderms (including 67 new sequences). We framed the ambulacrarian opsin repertoire within eumetazoan diversity by including selected reference opsins from non-ambulacrarians. Our findings corroborate the presence of all major ancestral bilaterian opsin groups in Ambulacraria. Furthermore, we identified two opsin groups specific to echinoderms. In conclu- sion, a molecular phylogenetic framework for investigating light-perception and photobiological behaviors in marine deuterostomes has been obtained.
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| 2. |
- Dimou, Niki, et al.
(författare)
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Circulating levels of testosterone, sex hormone binding globulin and colorectal cancer risk: Observational and mendelian randomization analyses
- 2021
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Ingår i: Cancer Epidemiology, Biomarkers and Prevention. - : AACR Publications. - 1055-9965 .- 1538-7755. ; 30:7, s. 1336-1348
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Tidskriftsartikel (refereegranskat)abstract
- Background: Epidemiologic studies evaluating associations between sex steroid hormones and colorectal cancer risk have yielded inconsistent results. To elucidate the role of circulating levels of testosterone, and sex hormone-binding globulin (SHBG) in colorectal cancer risk, we conducted observational and Mendelian randomization (MR) analyses.Methods: The observational analyses included 333,530 participants enrolled in the UK Biobank with testosterone and SHBG measured. HRs and 95% confidence intervals (CI) were estimated using multivariable Cox proportional hazards models. For MR analyses, genetic variants robustly associated with hormone levels were identified and their association with colorectal cancer (42,866 cases/42,752 controls) was examined using two-sample MR.Results: In the observational analysis, there was little evidence that circulating levels of total testosterone were associated with colorectal cancer risk; the MR analyses showed a greater risk for women (OR per 1-SD = 1.09; 95% CI, 1.01-1.17), although pleiotropy may have biased this result. Higher SHBG concentrations were associated with greater colorectal cancer risk for women (HR per 1-SD = 1.16; 95% CI, 1.05-1.29), but was unsupported by the MR analysis. There was little evidence of associations between free testosterone and colorectal cancer in observational andMRanalyses.Conclusions: Circulating concentrations of sex hormones are unlikely to be causally associated with colorectal cancer. Additional experimental studies are required to better understand the possible role of androgens in colorectal cancer development.
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| 3. |
- Docherty, Anna R, et al.
(författare)
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GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.
- 2023
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Ingår i: The American journal of psychiatry. - : American Psychiatric Association Publishing. - 1535-7228 .- 0002-953X. ; 180:10, s. 723-738
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Tidskriftsartikel (refereegranskat)abstract
- Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present study leveraged the genetic cohorts from both studies to conduct the largest GWAS meta-analysis of SA to date. Multi-ancestry and admixture-specific meta-analyses were conducted within groups of significant African, East Asian, and European ancestry admixtures.This study comprised 22 cohorts, including 43,871 SA cases and 915,025 ancestry-matched controls. Analytical methods across multi-ancestry and individual ancestry admixtures included inverse variance-weighted fixed-effects meta-analyses, followed by gene, gene-set, tissue-set, and drug-target enrichment, as well as summary-data-based Mendelian randomization with brain expression quantitative trait loci data, phenome-wide genetic correlation, and genetic causal proportion analyses.Multi-ancestry and European ancestry admixture GWAS meta-analyses identified 12 risk loci at p values <5×10-8. These loci were mostly intergenic and implicated DRD2, SLC6A9, FURIN, NLGN1, SOX5, PDE4B, and CACNG2. The multi-ancestry SNP-based heritability estimate of SA was 5.7% on the liability scale (SE=0.003, p=5.7×10-80). Significant brain tissue gene expression and drug set enrichment were observed. There was shared genetic variation of SA with attention deficit hyperactivity disorder, smoking, and risk tolerance after conditioning SA on both major depressive disorder and posttraumatic stress disorder. Genetic causal proportion analyses implicated shared genetic risk for specific health factors.This multi-ancestry analysis of suicide attempt identified several loci contributing to risk and establishes significant shared genetic covariation with clinical phenotypes. These findings provide insight into genetic factors associated with suicide attempt across ancestry admixture populations, in veteran and civilian populations, and in attempt versus death.
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| 4. |
- Dupret, Vincent, et al.
(författare)
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Non-tetrapod sarcopterygians from the Valentia Slate Formation (Givetian, Devonian) of the Iveragh Peninsula, south-western Ireland: systematic reappraisal and palaeobiogeographic implications
- 2023
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Ingår i: Spanish Journal of Palaeontology. - 2255-0550 .- 2660-9568. ; 38:1, s. 37-45
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Tidskriftsartikel (refereegranskat)abstract
- The Middle Devonian (Givetian) Valentia Slate Formation in the Iveragh Peninsula, southwest Ireland, is more renowned for the second oldest record of tetrapod trackways in the world than for its heavily metamorphosed bone remains. The present study focuses on new discoveries of non-tetrapod sarcopterygian fish fossils from the Valentia Slate Formation. Micro-CT scanning technology allows a re-interpretation of a previously published acanthodian fin spine as a fanged coronoid of a probable Rhizodontida and the identification of a Dipnoi tooth plate and bone. In addition, a scale of Holoptychius is described. The presence of rhizodontids suggests Gondwanan ties, and a first northward dispersal wave of these vertebrates into Euramerica as early as middle Givetian. This hypothesis is supported by the common occurrence of the placoderm Bothriolepis in the Valentia Slate Formation.
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| 5. |
- Dupret, Vincent, et al.
(författare)
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The Bothriolepis (Placodermi, Antiarcha) material from the Valentia Slate Formation of the Iveragh Peninsula (middle Givetian, Ireland) : Morphology, evolutionary and systematic considerations, phylogenetic and palaeogeographic implications
- 2023
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 18:2
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Tidskriftsartikel (refereegranskat)abstract
- Material of the antiarch placoderm Bothriolepis from the middle Givetian of the Valentia Slate Formation in Iveragh Peninsula, Ireland, is described and attributed to a new species, B. dairbhrensis sp. nov. A revision of the genus Bothriolepis is proposed, and its taxonomic content and previous phylogenetic analyses are reviewed, as well as the validity of morphologic characteristics considered important for the establishment of the genus, such as the shape of the preorbital recess of the neurocranium. A series of computerised phylogenetic analyses was performed, which reveals that our new species is the sister taxon to the Frasnian Scottish form B. gigantea. New phylogenetic and biogeographic analyses of the genus Bothriolepis together with comparisons between faunal assemblages reveal a first northward dispersal wave from Gondwana to Euramerica at the latest in the mid Givetian. Other Euramerican species of Bothriolepis seem to belong to later dispersal waves from Gondwana, non-excluding southward waves from Euramerica. Questions remain open such as the taxonomic validity and stratigraphic constraints for the most ancient forms of Bothriolepis in China, and around the highly speciose nature of the genus.
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| 6. |
- Mullins, Niamh, et al.
(författare)
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Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
- 2022
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Ingår i: Biological Psychiatry. - : Elsevier. - 0006-3223 .- 1873-2402. ; 91:3, s. 313-327
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders.METHODS: We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors.RESULTS: Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged.CONCLUSIONS: Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.
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| 7. |
- Mullins, Niamh, et al.
(författare)
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GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores
- 2019
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Ingår i: American Journal of Psychiatry. - : American Psychiatric Association Publishing. - 0002-953X .- 1535-7228. ; 176:8, s. 651-660
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Tidskriftsartikel (refereegranskat)abstract
- Objective: More than 90% of people who attempt suicide have a psychiatric diagnosis; however, twin and family studies suggest that the genetic etiology of suicide attempt is partially distinct from that of the psychiatric disorders themselves. The authors present the largest genome-wide association study (GWAS) on suicide attempt, using cohorts of individuals with major depressive disorder, bipolar disorder, and schizophrenia from the Psychiatric Genomics Consortium.Methods: The samples comprised 1,622 suicide attempters and 8,786 nonattempters with major depressive disorder; 3,264 attempters and 5,500 nonattempters with bipolar disorder; and 1,683 attempters and 2,946 nonattempters with schizophrenia. A GWAS on suicide attempt was performed by comparing attempters to nonattempters with each disorder, followed by a meta-analysis across disorders. Polygenic risk scoring was used to investigate the genetic relationship between suicide attempt and the psychiatric disorders.Results: Three genome-wide significant loci for suicide attempt were found: one associated with suicide attempt in major depressive disorder, one associated with suicide attempt in bipolar disorder, and one in the meta-analysis of suicide attempt in mood disorders. These associations were not replicated in independent mood disorder cohorts from the UK Biobank and iPSYCH. No significant associations were found in the meta-analysis of all three disorders. Polygenic risk scores for major depression were significantly associated with suicide attempt in major depressive disorder (R2=0.25%), bipolar disorder (R2=0.24%), and schizophrenia (R2=0.40%).Conclusions: This study provides new information on genetic associations and demonstrates that genetic liability for major depression increases risk for suicide attempt across psychiatric disorders. Further collaborative efforts to increase sample size may help to robustly identify genetic associations and provide biological insights into the etiology of suicide attempt.
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| 8. |
- Schneider, Kenneth, et al.
(författare)
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Potential influence of sea cucumbers on coral reef CaCO(3) budget : A case study at One Tree Reef
- 2011
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 116, s. G04032-
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Tidskriftsartikel (refereegranskat)abstract
- To endure, coral reefs must accumulate CaCO(3) at a rate greater or equal than the sum of mechanically, biologically, and chemically mediated erosion rates. We investigated the potential role of holothurians on the CaCO(3) balance of a coral reef. These deposit feeders process carbonate sand and rubble through their digestive tract and dissolve CaCO(3) as part of their digestive process. In aquarium incubations with Stichopus herrmanni and Holothuria leucospilota total alkalinity increased by 97 +/- 13 and 47 +/- 7 mu mol kg(-1), respectively. This increase was due to CaCO3 dissolution, 81 +/- 13 and 34 +/- 6 mu mol kg(-1) and ammonia secretion, 16 +/- 2 and 14 +/- 2 mu mol kg(-1), respectively, for these species. Surveys conducted at a long-term monitoring site of community calcification (DK13) on One Tree Reef indicated that the density of sea cucumbers was approximately 1 individual m(-2). We used these data and data from surveys at Shark Alley to estimate the dissolution of CaCO(3) by the sea cucumbers at both sites. At DK13 the sea cucumber population was estimated to be responsible for nearly 50% of the nighttime CaCO(3) dissolution, while in Shark Alley for most of the nighttime dissolution. Thus, in a healthy reef, bioeroders dissolution of CaCO(3) sediment appears to be an important component of the natural CaCO(3) turnover and a substantial source of alkalinity as well. This additional alkalinity could partially buffer changes in seawater pH associated with increasing atmospheric CO(2) locally, thus reducing the impact of ocean acidification on coral growth.
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| 9. |
- Watts, Eleanor L., et al.
(författare)
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Observational and genetic associations between cardiorespiratory fitness and cancer : a UK Biobank and international consortia study
- 2024
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Ingår i: British Journal of Cancer. - : Springer Nature. - 0007-0920 .- 1532-1827. ; 130, s. 114-124
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Tidskriftsartikel (refereegranskat)abstract
- Background: The association of fitness with cancer risk is not clear.Methods: We used Cox proportional hazards models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs) for risk of lung, colorectal, endometrial, breast, and prostate cancer in a subset of UK Biobank participants who completed a submaximal fitness test in 2009-12 (N = 72,572). We also investigated relationships using two-sample Mendelian randomisation (MR), odds ratios (ORs) were estimated using the inverse-variance weighted method.Results: After a median of 11 years of follow-up, 4290 cancers of interest were diagnosed. A 3.5 ml O2⋅min−1⋅kg−1 total-body mass increase in fitness (equivalent to 1 metabolic equivalent of task (MET), approximately 0.5 standard deviation (SD)) was associated with lower risks of endometrial (HR = 0.81, 95% CI: 0.73–0.89), colorectal (0.94, 0.90–0.99), and breast cancer (0.96, 0.92–0.99). In MR analyses, a 0.5 SD increase in genetically predicted O2⋅min−1⋅kg−1 fat-free mass was associated with a lower risk of breast cancer (OR = 0.92, 95% CI: 0.86–0.98). After adjusting for adiposity, both the observational and genetic associations were attenuated.Discussion: Higher fitness levels may reduce risks of endometrial, colorectal, and breast cancer, though relationships with adiposity are complex and may mediate these relationships. Increasing fitness, including via changes in body composition, may be an effective strategy for cancer prevention.
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| 10. |
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