Expressive

rs10141892 - CFL2 - RPL12P6

Magnitude 4.5 · 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

  • Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology - Unknown journal (n.d.) · Unknown authors · PubMed 33547301

    ABSTRACT: Serum liver enzyme concentrations are the most frequently-used laboratory markers of liver disease, a major cause of mortality. We conduct a meta-analysis of genome-wide association studies of liver enzymes from UK BioBank and BioBank Japan. We identified 160 previously-unreported independent alanine aminotransferase, 190 aspartate aminotransferase, and 199 alkaline phosphatase genome-wide significant associations, with some affecting multiple different enzymes. Associated variants implicate genes that demonstrate diverse liver cell type expression and promote a range of metabolic and liver diseases. These findings provide insight into the pathophysiology of liver and other metabolic diseases that are associated with serum liver enzyme concentrations. Serum liver enzymes are used

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • liver enzyme panel (ALT, AST, GGT, bilirubin) High

    rs10141892 associates with significantly elevated ALT (p=9e-13) and AST (p=1e-21) across 390K-928K participants; baseline measurement confirms phenotype

    Obtain fasting liver panel to establish baseline; repeat annually or per clinician recommendation

    • GWAS_CATALOG:33547301
    • GWAS_CATALOG:40436827

Discuss with your doctor

  • genetic predisposition to elevated liver enzymes and personalized monitoring plan High

    Strong GWAS associations (n=390K-928K) link rs10141892 to clinically significant ALT and AST elevation; clinical interpretation guides appropriate monitoring strategy

    Share genetic findings and baseline liver results; establish personalized monitoring interval based on current liver status

    • GWAS_CATALOG:33547301
    • GWAS_CATALOG:40436827

Lifestyle

  • excessive alcohol consumption Moderate

    Genetic predisposition to elevated liver enzymes suggests reduced hepatic reserve; alcohol is hepatotoxic and may cause disproportionate enzyme elevation and liver injury

    Limit to <14 drinks/week for men, <7 for women; discuss individual safe threshold with clinician after baseline results reviewed

    • GWAS_CATALOG:33547301
    • GWAS_CATALOG:40436827