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

Lipids in Health and Disease

Imran Ali Khan³  Mohammed Yahya Al-Naami⁷  Waleed Tamimi⁴  Rana MW Hasanato⁸  Sarar Mohamed¹  May Salem Al-Nbaheen²  Wejdan Al-Hussaini⁶  Tarek S Kashour⁵  Khalid K Alharbi³ 

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

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

Others  :  829119
DOI  :  10.1186/1476-511X-12-177

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

【 摘 要 】

Background

The 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.

Results

This 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).

Conclusion

Our 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】

   
2013 Alharbi et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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