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Can I read Genome-wide Association Analysis Reveals Insights Into the Genetic Architecture of Right Ventricular Structure and Function on EtoBox?

Genome-wide Association Analysis Reveals Insights Into the Genetic Architecture of Right Ventricular Structure and Function by Nay Aung; Jose D. Vargas; Chaojie Yang; Kenneth Fung; Mihir M. Sanghvi; Stefan K. Piechnik; Stefan Neubauer; Ani Manichaikul; Jerome I. Rotter; Kent D. Taylor; Joao A. C. Lima; David A. Bluemke; Steven M. Kawut; Steffen E. Petersen; Patricia B. Munroe is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Genome-wide Association Analysis Reveals Insights Into the Genetic Architecture of Right Ventricular Structure and Function about?

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.

Who reads Genome-wide Association Analysis Reveals Insights Into the Genetic Architecture of Right Ventricular Structure and Function?

It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.

Author
Nay Aung; Jose D. Vargas; Chaojie Yang; Kenneth Fung; Mihir M. Sanghvi; Stefan K. Piechnik; Stefan Neubauer; Ani Manichaikul; Jerome I. Rotter; Kent D. Taylor; Joao A. C. Lima; David A. Bluemke; Steven M. Kawut; Steffen E. Petersen; Patricia B. Munroe
Publisher
Springer Science and Business Media LLC
Published
2022
Language
EN
Field
Biochemistry, Genetics and Molecular Biology (Life Sciences)

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