Expressive

rs11689011 - EPAS1

Magnitude 2.2 · 3 studies on file

Reported associations

  • Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction - Unknown journal (n.d.) · Unknown authors · PubMed 32439900

    ABSTRACT: The electrocardiographic PR interval reflects atrioventricular conduction, and is associated with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and cardiovascular mortality. Here we report a multi-ancestry (N = 293,051) genome-wide association meta-analysis for the PR interval, discovering 202 loci of which 141 have not previously been reported. Variants at identified loci increase the percentage of heritability explained, from 33.5% to 62.6%. We observe enrichment for cardiac muscle developmental/contractile and cytoskeletal genes, highlighting key regulation processes for atrioventricular conduction. Additionally, 8 loci not previously reported harbor genes underlying inherited arrhythmic syndromes and/or cardiomyopathies suggesting a role for

  • 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

  • Fifteen Genetic Loci Associated with the Electrocardiographic P-wave - Unknown journal (n.d.) · Unknown authors · PubMed 28794112

    ABSTRACT: Background The P-wave on an electrocardiogram is a measure of atrial electrical function and its characteristics may serve as predictors for atrial arrhythmias. Increased mean P-wave duration and P-wave terminal force traditionally have been used as markers for left atrial enlargement and both have been associated with increased risk of atrial fibrillation. Here, we explore the genetic basis of P-wave morphology through meta-analysis of genome-wide association study (GWAS) results for P-wave duration and P-wave terminal force from twelve cohort studies. Methods and Results We included 44,456 individuals, of which 6,778 (16%) were of African ancestry. Genotyping, imputation, and GWAS were performed at each study site. Summary level results were meta-analyzed centrally using invers

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