Expressive

rs10618080 - AUTS2

Magnitude 2.2 · 1 study on file

Reported associations

  • Large scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32514122

    ABSTRACT: The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 x 10−9). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 associated with coronary artery disease and p.V326A of POT1 associated with lung cancer. We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.

Lifestyle context

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

Diet

  • refined carbohydrates and sugar-sweetened beverages Moderate

    rs10618080-C carriers have increased diabetes risk; refined carbs accelerate disease progression

    Replace with whole grains, legumes, non-starchy vegetables

Exercise

  • regular aerobic physical activity Moderate

    rs10618080-C carriers have increased diabetes risk; physical activity is a proven risk modifier

    150 minutes of moderate-intensity exercise per week

Screening

  • fasting glucose and HbA1c screening Moderate

    GWAS evidence (p=9e-18) links rs10618080-C to Type 2 diabetes risk; screening enables early detection

    Baseline screening at age 30-35 if not done; repeat every 1-3 years if normal