53 research outputs found

    Profiles of disability among adults with bipolar spectrum disorders

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    Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/78039/1/57.pd

    Germline variation at 8q24 and prostate cancer risk in men of European ancestry

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    Chromosome 8q24 is a susceptibility locus for multiple cancers, including prostate cancer. Here we combine genetic data across the 8q24 susceptibility region from 71,535 prostate cancer cases and 52,935 controls of European ancestry to define the overall contribution of germline variation at 8q24 to prostate cancer risk. We identify 12 independent risk signals for prostate cancer (p < 4.28 × 10−15), including three risk variants that have yet to be reported. From a polygenic risk score (PRS) model, derived to assess the cumulative effect of risk variants at 8q24, men in the top 1% of the PRS have a 4-fold (95%CI = 3.62–4.40) greater risk compared to the population average. These 12 variants account for ~25% of what can be currently explained of the familial risk of prostate cancer by known genetic risk factors. These findings highlight the overwhelming contribution of germline variation at 8q24 on prostate cancer risk which has implications for population risk stratification

    Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants

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    Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling. © 2018 The Author(s).Prostate cancer is a polygenic disease with a large heritable component. A number of common, low-penetrance prostate cancer risk loci have been identified through GWAS. Here we apply the Bayesian multivariate variable selection algorithm JAM to fine-map 84 prostate cancer susceptibility loci, using summary data from a large European ancestry meta-analysis. We observe evidence for multiple independent signals at 12 regions and 99 risk signals overall. Only 15 original GWAS tag SNPs remain among the catalogue of candidate variants identified; the remainder are replaced by more likely candidates. Biological annotation of our credible set of variants indicates significant enrichment within promoter and enhancer elements, and transcription factor-binding sites, including AR, ERG and FOXA1. In 40 regions at least one variant is colocalised with an eQTL in prostate cancer tissue. The refined set of candidate variants substantially increase the proportion of familial relative risk explained by these known susceptibility regions, which highlights the importance of fine-mapping studies and has implications for clinical risk profiling. © 2018 The Author(s).Peer reviewe

    Uniform nomenclature for the mitochondrial contact site and cristae organizing system

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    The mitochondrial inner membrane contains a large protein complex that functions in inner membrane organization and formation of membrane contact sites. The complex was variably named the mitochondrial contact site complex, mitochondrial inner membrane organizing system, mitochondrial organizing structure, or Mitofilin/Fcj1 complex. To facilitate future studies, we propose to unify the nomenclature and term the complex "mitochondrial contact site and cristae organizing system" and its subunits Mic10 to Mic60

    The Moderating Effects of Organized Activities on the Relations between Body Mass and Social Adjustment in Adolescents

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    Overweight and obese children and adolescents often experience social adjusment difficulties, including higher rates of peer victimization and loneliness. Our primary goal was to examine the moderating influences of various aspects of organized activity involvement (i.e., intensity, duration, amount of physical activity, perceived importance, liking, and quality of adult- and peer relationships) on body mass index (BMI) and social adjustment relations. Results suggested that activity involvement moderated BMI-adjustment relations in certain instances. Specifically, fewer hours and less physical activity was associated with less loneliness among heavier adolescents. This study affirms the need for further research to address the impact that organized activity participation has on social adjustment among a variety of youth

    Compulsive Exercise in College Students

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    Compulsive exercise (CE) involves a pathological drive to exercise or control weight (Dittmer, Jacobi, & Voderholzer, 2018). College women who endorsed aspects of CE have been found to exhibit disordered eating, depression, and mood sensitivity (Ackard et al., 2002). This study aims to: 1) characterize CE and physical activity (PA) in a college sample, 2) determine mental health outcomes of CE and PA, and 3) examine the relation between behavioral activation, inhibition, and CE or PA. Results suggest that increased levels of drive and negative affect are associated with CE. However, fewer depressive symptoms are associated with increased PA duration
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