rs11863449 - ZFPM1

Magnitude 2.2 · 2 studies on file

Reported associations

  • 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

  • Genetic architecture of plasma pTau217 and related biomarkers in Alzheimer's disease via genome‐wide association studies - Unknown journal (n.d.) · Unknown authors · PubMed 41804841

    ABSTRACT: Abstract INTRODUCTION We aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) ‐related plasma biomarkers in an East Asian population. METHODS Genome‐wide association studies (GWAS) of plasma phosphorylated tau at threonine 217 (pTau217), pTau181, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) were performed in 1,972 individuals from the Korea‐Registries to Overcome and Accelerate Dementia Research (K‐ROAD) cohort. Results were integrated with Korean single‐nucleus transcriptomics, AD‐relevant brain quantitative trait loci resources, and summary‐based Mendelian randomization (SMR) and colocalization analyses. RESULTS Genome‐wide significant loci were identified for all biomarkers, including DACT


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