Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population

Lipids in Health and Disease

Research

Tarek S Kashour¹  Khalid K Alharbi²  Imran Ali Khan²  Wejdan Al-Hussaini³  Waleed Tamimi⁴  Rana MW Hasanato⁵  Sarar Mohamed⁶  Mohammed Yahya Al-Naami⁷  May Salem Al-Nbaheen⁸ 

[1] Department of Cardiac Sciences, College of medicine, King Fahad Cardiac Center, King Saud University, P.O. Box 7805 (92), 11472, Riyadh, Kingdom of Saudi Arabia;Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, 11433, Riyadh, Kingdom of Saudi Arabia;Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, P.O. Box 10219, 11433, Riyadh, Kingdom of Saudi Arabia;Stem Cell Units, Anatomy Department, College of Medicine, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia;Department of Pathology & Laboratory Medicine, King Fahad National Guard Hospital, King Khalid University Hospital, College of Medicine King Saud Bin Abdulaziz University for Health Sciences, P.O. Box 22490, 11426, Riyadh, Saudi Arabia;Department of Pathology, College of Medicine, King Saud University, King Khalid University Hospital, P.O. Box 66533, 11586, Riyadh, Kingdom of Saudi Arabia;Department of Pediatrics, King Khalid University Hospital, College of Medicine, King Saud University, P.O. Box 2925, 11461, Riyadh, Kingdom of Saudi Arabia;Department of Surgery#37, College of Medicine, King Saud University and Affiliated Hospitals, P.O. Box-7805, 11472, Riyadh, Kingdom of Saudi Arabia;Stem Cell Units, Anatomy Department, College of Medicine, King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia;Prepratory Year-Saudi Electronic University, Riyadh, Saudi Arabia;

关键词: Familial hypercholesterolemia;    Angiotensin converting enzyme;    Polymorphism;   

DOI  :  10.1186/1476-511X-12-177

 received in 2013-10-26, accepted in 2013-11-18,  发布年份 2013

来源: Springer

【 摘 要 】

BackgroundThe study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH.ResultsThis is a case–control study carried out purely in Saudi population. Genomic DNA was isolated from 128 subjects who have participated in this study. ACE gene I/D polymorphism was analyzed by polymerase chain reaction in 64 FH cases and 64 healthy controls. There was no statistically significant difference between the groups with respect to genotype distribution. Furthermore, we did not find any significant difference in the frequency of ACE I/D polymorphism in FH subjects when stratified by gender (p = 0.43).ConclusionOur data suggest that ACE gene I/D polymorphism examined in this study has no role in predicting the occurrence and diagnosis of FH.

【 授权许可】

Unknown   
© Alharbi et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.