Expressive

rs12445948 - UNGP1 - HNRNPA1L3

Magnitude 2.2 · 2 studies on file

Reported associations

  • Common genetic variation indicates separate etiologies for periventricular and deep white matter hyperintensities - Unknown journal (n.d.) · Unknown authors · PubMed 32517579

    ABSTRACT: Background and Purpose Periventricular (PVWMH) and deep white matter hyperintensities (DWMH) are regional classifications of white matter hyperintensities (WMH) and reflect proposed differences in etiology. In the first study to date, we undertook genome-wide association analyses (GWAS) of DWMH and PVWMH to show that these phenotypes have different genetic underpinnings. Methods Participants were aged 45 years and older; free of stroke and dementia. We conducted GWAS of PVWMH and DWMH in 26,654 participants from CHARGE, ENIGMA, and the UK Biobank (UKB). Regional correlations were investigated using the GWAS-pairwise method. Cross-trait genetic correlations between PVWMH, DWMH, stroke, and dementia were estimated using LDSC. Results In the discovery and replication analysis, for P

  • An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank - Unknown journal (n.d.) · Unknown authors · 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

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