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Angiotensin-converting enzyme insertion/deletion polymorphism in an Egyptian cohort of hypertrophic cardiomyopathy

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.

Middle East Journal of Medical Genetics: July 2016 - Volume 5 - Issue 2 - p 65–70
doi: 10.1097/01.MXE.0000484368.11655.d4
Original articles
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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.

aMagdi Yacoub Heart Foundation, Aswan Heart Center

bAlexandria Faculty of Medicine, Alexandria

cNational Heart Institute, Giza, Egypt

dCairo Faculty of Medicine and College of Medicine, University of Sharjah, Sharjah, United Arab Emirates

eNational Heart and Lung Institute, Imperial College, London, UK

* Heba Sh. Kassem and Sherif A. Algendy have contributed equally to the writing of this article.

Correspondence to Heba Sh. Kassem, MD, PhD, MagdiYacoub Molecular Genetics Laboratory, Bibliotheca Alexandrina, 116 Horreya Avenue, Shallalat, Alexandria 21131, Egypt Tel: +20 100 175 2274; e-mail: heba.kassem@gmail.com

Received November 29, 2015

Accepted February 10, 2016

© 2016 Middle East Journal of Medical Genetics
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