Genetic Association of Beta-Myosin Heavy-Chain Gene (MYH7) with Cardiac Dysfunction

• Published in: Genes Vol. 13; no. 9; p. 1554
• Main Authors: Yousaf, Memoona, Khan, Waqas Ahmed, Shahzad, Khurrum, Khan, Haq Nawaz, Ali, Basharat, Hussain, Misbah, Awan, Fazli Rabbi, Mustafa, Hamid, Sheikh, Farah Nadia
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 29.08.2022; MDPI
• Subjects: Alleles; Calcium-binding protein; Cardiac Myosins - genetics; Cardiomyocytes; Cardiomyopathy; Cholesterol; Cholesterol, LDL - genetics; Congestive heart failure; Creatinine; Development and progression; Ejection fraction; Environmental factors; Genetic aspects; Genetic diversity; Genomes; Genotype & phenotype; Genotypes; Genotyping; Health aspects; Heart Diseases; Heart failure; Heart Failure - genetics; High density lipoprotein; Humans; Kinases; Laboratories; Low density lipoprotein; Muscle contraction; Mutation; MYH7 gene; Myocardium; Myosin; Myosin Heavy Chains - genetics; Pathogenesis; Patients; Phenotype; Proteins; Structure-function relationships; Troponin; Troponin I; Troponin I - genetics; Uric Acid; Ventricular Myosins - genetics; Pakistan; United States > US; Germany; rs121913642; cardiac dysfunction; heart failure (HF); variants; MYH7
• ISSN: 2073-4425; 2073-4425
• DOI: 10.3390/genes13091554

Cardiac dysfunction accelerates the risk of heart failure, and its pathogenesis involves a complex interaction between genetic and environmental factors. Variations in myosin affect contractile abilities of cardiomyocytes and cause structural and functional abnormalities in myocardium. The study aims to find the association of MYH7 rs121913642 (c.1594 T>C) and rs121913645 (c.667G>A) variants with cardiac dysfunction in the Punjabi Pakistani population. Patients with heart failure (n = 232) and healthy controls (n = 205) were enrolled in this study. MYH7 variant genotyping was performed using tetra ARMS-PCR. MYH7 rs121913642 TC genotype was significantly more prevalent in the patient group (p < 0.001). However, MYH7 rs121913645 genotype frequencies were not significantly different between the patient and control groups (p < 0.666). Regression analysis also revealed that the rs121913642 C allele increases the risk of cardiac failure by ~2 [OR:1.98, CI: 1.31−2.98, p < 0.001] in comparison to the T allele. High levels of the cardiac enzymes cardiac troponin I (cTnI) and CK-MB were observed in patients. There was also an increase in total cholesterol, LDL cholesterol, and uric acid in patients compared to the healthy control group (p < 0.001). In conclusion, the MYH7 gene variant rs121913642 is genetically associated with cardiac dysfunction and involved in the pathogenesis of HF.