rs12296477 - SLC4A8

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome-wide meta-analysis of problematic alcohol use in 435,563 individuals yields insights into biology and relationships with other traits - Unknown journal (n.d.) · Unknown authors · PubMed 32451486

    ABSTRACT: Problematic alcohol use (PAU) is a leading cause of death and disability worldwide. Although genome-wide association studies (GWASs) have identified PAU risk genes, the genetic architecture of this trait is not fully understood. We conducted a proxy-phenotype meta-analysis of PAU combining alcohol use disorder and problematic drinking in 435,563 European-ancestry individuals. We identified 29 independent risk variants, 19 of them novel. PAU was genetically correlated with 138 phenotypes, including substance use and psychiatric traits. Phenome-wide polygenic risk score analysis in an independent biobank sample (BioVU, n=67,589) confirmed the genetic correlations between PAU and substance use and psychiatric disorders. Genetic heritability of PAU was enriched in brain and in conser


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Lifestyle context

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

Discuss with your doctor

  • alcohol consumption assessment given genetic risk Moderate

    C risk allele at rs12296477 associated with increased risk for problematic alcohol use through effects on consumption quantity

    Review personal alcohol consumption patterns and family history of alcohol use disorder with physician