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Angiotensin-converting enzyme insertion/deletion polymorphism in | 5312
Translational Medicine

Translational Medicine
Open Access

ISSN: 2161-1025

+44 1223 790975

Angiotensin-converting enzyme insertion/deletion polymorphism in hypertrophic cardiomyopathy: An Egyptian case control study


4th International Conference on Translational Medicine

October 26-28, 2015 Baltimore, USA

Sherif A Algendy1, Heba Sh Kassem1,4, Remon Sobhy Azer1, Maha Saber-Ayad3, Sarah Moharam-El Gamal2, Gehan Magdy4, Ahmed Alguindy1 and Magdi H Yacoub1,5

1Magdi Yacoub Heart Foundation, Egypt 2National Heart Institute, Egypt 3University of Sharjah, UAE 4Alexandria Faculty of Medicine, Egypt 5Imperial College, UK

Posters-Accepted Abstracts: Transl Med

Abstract :

Introduction: Hypertrophic cardiomyopathy exhibits highly variable clinical profile. Sarcomeric gene mutations are known as a common cause in disease etiology. However, modifier genes are proposed to contribute to the disease expression. Polymorphisms in genes encoding the renin-angiotensin-aldosterone system are plausible candidate modifiers. The insertion/deletion (I/D) polymorphism of the ACE gene has been shown to predict about half of the inter-individual variability in the serum and tissue levels of the ACE enzyme. The ACE enzyme activity was reported to be highest in DD genotype, intermediate in ID and lowest in II individuals. In this study, we examined the potential relationship between ACE I/D polymorphism and HCM in an Egyptian case control study. Materials & Methods: We examined 203 healthy adult control subjects and 211 genetically unrelated HCM patients -screened for mutations in three sarcomeric genes; MYBPC, MYH7, TNNT2 for the ACE I/D polymorphism. Patients were assessed for their clinical and echocardiographic parameters (determination of LVMI and Wigle��?s score was performed whenever possible). Results: The D allele frequency was found to be similar between HCM cases and healthy subjects (0.68), and is among the highest reported frequencies in other populations. The HCM cases showed a statistically significant higher frequency of DD genotype compared to control subjects (P=0.04). Furthermore, the DD genotype was significantly higher among the sporadic HCM patient group compared to familial cases (P=0.0001). The ACE I/D genotype status did not reveal significant correlation to the pattern of disease expression (both clinically and echo cardio-graphically). Discussion: This study on a large sample size to determine the role of the ACE polymorphism in HCM is useful to compensate for effects of other modifiers. ACE I/D polymorphism did not correlate with disease expression of the studied cases. However, further studies on the modifying effect of this variant within extended families may show a contributing role of ACE I/D variant to disease expression in a relatively homogeneous genetic background. Study of additional potential modifiers may show a synergetic effect on HCM variable expressivity. Our observation on ACE genotype distribution among the studied cases suggests that HCM expression particularly among the sporadic cases, is partially influenced by a genetically predisposed milieu.

Biography :

Email: sherifalgendy87@hotmail.com

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