Angiotensin-converting enzyme insertion/deletion polymorphism in an Egyptian cohort of hypertrophic cardiomyopathy. Issue 2 (July 2016)

• Record Type: Journal Article
• Authors: Kassem, Heba Sh.; Algendy, Sherif A.; Azer, Remon S.; Magdy, Gehan; Moharem-Elgamal, Sarah; Ayad, Maha S.; Elguindy, Ahmed; Abdelghany, Besra S.; Yacoub, Magdi H.
• Is Part Of: Middle East journal of medical genetics. Volume 5:Issue 2(2016:Jul.)
• Publication Date: 2016-07
• Subjects: ACE I/D polymorphism -- Egypt -- genetics -- hypertrophic cardiomyopathy; Medical genetics -- Periodicals; Medical genetics -- Middle East -- Periodicals; Genetic disorders -- Periodicals; Genetic disorders -- Middle East -- Periodicals; Genetic Diseases, Inborn -- Middle East -- Periodicals; Genetics, Medical -- Middle East -- Periodicals; 616.042
• DOI: 10.1097/01.MXE.0000484368.11655.d4
• Languages: English
• ISSNs: 2090-8571

Abstract

Abstract : The present study evaluated the controversial role of angiotensin-converting enzyme (ACE) I/D polymorphism in patients with hypertrophic cardiomyopathy (HCM). Two hundred and eleven unrelated HCM patients (138 sporadic and 73 familial) and 203 age and sex-matched healthy volunteers were included. The ACE DD genotype was higher in HCM patients ( P =0.049) and significantly more common in the sporadic HCM group ( P =0.0001). Although the distribution of ACE I/D genotype in the control group was in Hardy–Weinberg equilibrium ( P =0.778), it was not so in HCM patients ( P =0.0010). Among the patients with known sarcomeric mutation, the distribution of D allele was observed to be higher among those having mutations in TNNT2 and MYH7 ( P =0.0476). Similar to other studies undertaken in different populations, there was no significant effect of the ACE I/D genotype observed on HCM phenotypic characterization in the present cohort. ACE I/D allelotyping probably plays a contributing role in initiation of HCM phenotype synergistically with the causative pathogenic sarcomeric mutation, rather than directly influencing variable disease expressivity.