biostudies-literatureAung NNCATS NIH HHSBritish Heart FoundationNIDDK NIH HHSBarts CharityNHLBI NIH HHSMedical Research CouncilNational Institute for Health Research (NIHR)Wellcome TrustAcademy of Medical SciencesEngineering and Physical Sciences Research Council783-791https://www.ebi.ac.uk/biostudies/studies/S-EPMC11929962biostudies-literatureUnknown54(6)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^-8, 17 of which are validated in a combined meta-analysis (n = 41,830). Several candidate genes overlap with Mendelian cardiomyopathy genes and are involved in cardiac muscle contraction and cellular adhesion. The RV polygenic risk scores (PRSs) are associated with DCM and CAD. The findings substantially advance our understanding of the genetic underpinning of RV measurements.Nature geneticsGenome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.PMC11929962203553/Z/16/ZEP/P001009/1UL1 TR001420UL1 TR001881N01 HC095166R01 HL086719N01 HC095165N01 HC095168N01 HC095167K24 HL103844N01 HC095169N01 HC09516075N92020D00007N01 HC095162N01 HC095161N01 HC095164N01 HC095163PG/14/89/31194CL-2019-19-00375N92020D0000175N92020D00002MC_QA13785375N92020D0000575N92020D0000675N92020D0000375N92020D00004MC_PC_17228UL1 TR000040HHSN268201500003CACF-2019-19-006UL1 TR001079N02 HL064278SGL024\1024N01 HC095159MR/L016311/1G-002255N02 HL64278P30 DK063491HHSN268201500003ITaylor KDRotter JIFung KNeubauer SSanghvi MMVargas JDYang CPetersen SEBluemke DAMunroe PBKawut SMLima JACAung NManichaikul APiechnik SKfalseGenome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function.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^-8, 17 of which are validated in a combined meta-analysis (n = 41,830). Several candidate genes overlap with Mendelian cardiomyopathy genes and are involved in cardiac muscle contraction and cellular adhesion. The RV polygenic risk scores (PRSs) are associated with DCM and CAD. The findings substantially advance our understanding of the genetic underpinning of RV measurements.2022-01-01T00:00:00Z2022 Jun2026-06-01T06:09:59.453Z2026-04-08T09:46:44.505ZS-EPMC119299623569786810.1038/s41588-022-01083-2