Expressive

rs10020462 - REST

Magnitude 2.0 · 2 studies on file

Reported associations

  • An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank - Nature neuroscience (2021) · Smith SM, Douaud G, Chen W, Hanayik T, Alfaro-Almagro F, Sharp K, Elliott LT · PubMed 33875891

    ABSTRACT: UK Biobank is a major prospective epidemiological study, including multimodal brain imaging, genetics and ongoing health outcomes. Previously, we published genome-wide associations of 3,144 brain imaging-derived phenotypes, with a discovery sample of 8,428 subjects. Here we present a new open resource of GWAS summary statistics, using the 2020 data release, almost tripling the discovery sample size. We now include the X chromosome, and new classes of image derived phenotypes (subcortical volumes and tissue contrast). Previously we had found 148 replicated clusters of associations between genetic variants and imaging phenotypes; here we find 692, including 12 on the X chromosome. We describe some of the newly found associations, focussing on the X chromosome and autosomal associat

  • Genome-wide association analysis of 19,629 individuals identifies variants influencing regional brain volumes and refines their genetic co-architecture with cognitive and mental health traits - Nature genetics (2020) · Zhao B, Luo T, Li T, Li Y, Zhang J, Shan Y, Wang X, Yang L, Zhou F, Zhu Z, Zhu H · PubMed 31676860

    ABSTRACT: Volumetric variations of human brain are heritable and are associated with many brain-related complex traits. Here we performed genome-wide association studies (GWAS) of 101 brain volumetric phenotypes using the UK Biobank (UKB) sample including 19,629 participants. GWAS identified 365 independent genetic variants exceeding significance threshold of 4.9 × 10−10, adjusted for testing multiple phenotypes. Gene-based association study found 157 associated genes (124 new), and functional gene mapping analysis linked 146 additional genes. Many of the discovered genetic variants and genes have previously been implicated in cognitive and mental health traits. Using genome-wide polygenic risk score prediction, more than 6% of phenotypic variance (P = 3.13 × 10−24) in four other ind

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