rs11199043 - TIAL1 - RAD1P1

Magnitude 2.2 · 1 study 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

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