Expressive

rs11083473 - ACTN4

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function. - Nature genetics (2022) · Aung N, Vargas JD, Yang C, Fung K, Sanghvi MM, Piechnik SK, Neubauer S, Manichaikul A, Rotter JI, Taylor KD, Lima JAC, Bluemke DA, Kawut SM, Petersen SE, Munroe PB · PubMed 35697868

    Right ventricular (RV) structure and function influence the morbidity and mortality from coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and heart failure. Little is known about the genetic basis of RV measurements. Here we perform genome-wide association analyses of four clinically relevant RV phenotypes (RV end-diastolic volume, RV end-systolic volume, RV stroke volume, RV ejection fraction) from cardiovascular magnetic resonance images, using a state-of-the-art deep learning algorithm in 29,506 UK Biobank participants. We identify 25 unique loci associated with at least one RV phenotype at P < 2.27 ×10 , 17 of which are validated in a combined meta-analysis (n = 41,830). Several candidate genes overlap with Mendelian cardiomyopathy genes and

  • A Genomics England haplotype reference panel and imputation of UK Biobank - Unknown journal (n.d.) · Unknown authors · PubMed 39134668

    ABSTRACT: We built a reference panel with 342 million autosomal variants using 78,195 individuals from the Genomics England (GEL) dataset, achieving a phasing switch error rate of 0.18% for European samples and imputation quality of r2 = 0.75 for variants with minor allele frequencies as low as 2 × 10−4 in white British samples. The GEL-imputed UK Biobank genome-wide association analysis identified 70% of associations found by direct exome sequencing (P < 2.18 × 10−11), while extending testing of rare variants to the entire genome. Coding variants dominated the rare-variant genome-wide association results, implying less disruptive effects of rare non-coding variants. A Genomics England haplotype reference panel constructed using sequence data from 78,195 individuals

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