Expressive

rs12050794 - MYO9A

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. - Molecular psychiatry (2014) · Luykx JJ, Bakker SC, Lentjes E, Neeleman M, Strengman E, Mentink L, DeYoung J, de Jong S, Sul JH, Eskin E, van Eijk K, van Setten J, Buizer-Voskamp JE, Cantor RM, Lu A, van Amerongen M, van Dongen EP, Keijzers P, Kappen T, Borgdorff P, Bruins P, Derks EM, Kahn RS, Ophoff RA · PubMed 23319000

    Studying genetic determinants of intermediate phenotypes is a powerful tool to increase our understanding of genotype-phenotype correlations. Metabolic traits pertinent to the central nervous system (CNS) constitute a potentially informative target for genetic studies of intermediate phenotypes as their genetic underpinnings may elucidate etiological mechanisms. We therefore conducted a genome-wide association study (GWAS) of monoamine metabolite (MM) levels in cerebrospinal fluid (CSF) of 414 human subjects from the general population. In a linear model correcting for covariates, we identified one locus associated with MMs at a genome-wide significant level (standardized β=0.32, P=4.92 × 10(-8)), located 20 kb from SSTR1, a gene involved with brain signal transduction and glutamate rece

  • Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures - Unknown journal (n.d.) · Unknown authors · PubMed 40436827

    ABSTRACT: Genome-wide association studies (GWAS) have predominantly focused on European ancestry populations, limiting biological discoveries across diverse populations. Here we report GWAS findings from 153,950 individuals across 36 quantitative traits in the Korean Cancer Prevention Study-II (KCPS2) Biobank. We discovered 301 previously unreported genetic loci in KCPS2, including an association between thyroid-stimulating hormone and CD36. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank identified 4588 loci that were not significant in any contributing GWAS. We describe differences in genetic architectures across these East Asian and European samples. We also highlight East Asian specific associations, including a known pleiotrop

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