Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy

•This study extensively examines nDNAs and mtDNAs using a - rare variant - analysis.•MT-RNR2 correlated with apical HCM and MYBPC3 inversely contributed to apical HCM.•Sarcomere-associated genes correlated with diastolic dysfunction and LA remodeling.•Rare variants of MT-COI also correlated with dia...

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Veröffentlicht in:	Mitochondrion 2020-07, Vol.53, p.48-56
Hauptverfasser:	Chung, Hyemoon, Kim, Yoonjung, Cho, Sun-Mi, Lee, Ho-Joon, Park, Chul-Hwan, Kim, Jong-Youn, Lee, Sang-Hak, Min, Pil-Ki, Yoon, Young Won, Lee, Byoung Kwon, Kim, Woo-Shik, Hong, Bum-Kee, Kim, Tae Hoon, Rim, Se-Joong, Kwon, Hyuck Moon, Choi, Eui-Young, Lee, Kyung-A
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Cardiac Myosins - genetics Cardiomyopathy, Hypertrophic - genetics Carrier Proteins - genetics Cell Biology Endophenotypes Female Genetic Association Studies Genetic Predisposition to Disease Genetics & Heredity Humans Hypertrophic cardiomyopathy Life Sciences & Biomedicine Male Middle Aged Mitochondria, Heart - genetics Mitochondria-related genes Mitochondrial DNA Mitochondrial Proteins - genetics Mutation Myosin Heavy Chains - genetics Phenotype Prognosis Sarcomere associated genes Sarcomeres - genetics Science & Technology Troponin I - genetics
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