Expressive

rs10993418 - AOPEP

Magnitude 2.2 · 2 studies on file

Reported associations

  • Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation - Unknown journal (n.d.) · Unknown authors · PubMed 40645996

    ABSTRACT: Atrial fibrillation (AF) is a common cardiac arrhythmia with strong genetic components, yet its underlying molecular mechanisms and potential therapeutic targets remain incompletely understood. We conducted a cross-population genome-wide meta-analysis of 252,438 AF cases and identified 525 loci that met genome-wide significance. Two loci of PITX2 and ZFHX3 genes were identified as shared across populations of different ancestries. Comprehensive gene prioritization approaches reinforced the role of muscle development and heart contraction while also uncovering additional pathways, including cellular response to transforming growth factor-beta. Population-specific genetic correlations uncovered common and unique circulatory comorbidities between Europeans and Africans. Mendelian ra

  • Trans-ancestry GWAS identifies 59 loci and improves risk prediction and fine-mapping for kidney stone disease - Unknown journal (n.d.) · Unknown authors · PubMed 40216741

    ABSTRACT: Kidney stone disease is a multifactorial disease with increasing incidence worldwide. Trans-ancestry GWAS has become a popular strategy to dissect genetic structure of complex traits. Here, we conduct a large trans-ancestry GWAS meta-analysis on kidney stone disease with 31,715 cases and 943,655 controls in European and East Asian populations. We identify 59 kidney stone disease susceptibility loci, including 13 novel loci and show similar effects across populations. Using fine-mapping, we detect 1612 variants at these loci, and pinpoint 25 causal signals with a posterior inclusion probability >0.5 among them. At a novel locus, we pinpoint TRIOBP gene and discuss its potential link to kidney stone disease. We show that a cross-population polygenic risk score, PRS-CSxEAS&EUR, exhi

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Lifestyle context

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

Diet

  • increased daily water intake Moderate

    AOPEP variants increase kidney stone disease risk; hydration reduces urinary supersaturation and stone formation

    aim for 2.5-3 liters daily or maintain urine output >2 liters per day

  • sodium and high-oxalate food intake Moderate

    High sodium and oxalate increase urinary calcium and oxalate levels, elevating kidney stone risk

    maintain sodium <2.3g daily; limit spinach, nuts, chocolate intake as tolerated

Screening

  • baseline kidney ultrasound or CT imaging Moderate

    Genetic predisposition to kidney stone formation warrants baseline imaging and surveillance planning

    discuss timing with physician; baseline imaging if risk factors present; repeat based on symptoms

  • electrocardiogram and heart rhythm monitoring Moderate

    AOPEP variants show extremely strong association with atrial fibrillation with reduced AOPEP expression in cardiac tissue

    baseline 12-lead ECG; discuss periodic screening intervals with cardiologist based on age and symptoms