rs12253987 - NEURL1
Magnitude 2.8 · 1 study on file
Reported associations
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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
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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genetic arrhythmia risk with cardiologist Moderate
Strong genetic association (p=1.00e-29) warrants personalized screening intensity and risk management strategy.
Schedule cardiology visit to discuss results, review family history, and establish monitoring plan
Screening
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baseline ECG and cardiac rhythm assessment Moderate
Variant associated with 25.6% increased arrhythmia risk; baseline ECG establishes reference for future comparison.
Obtain baseline 12-lead ECG; discuss Holter or event monitor need with cardiologist