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

Khalid K Alharbi,Tarek S Kashour,Wejdan Al-Hussaini,Waleed Tamimi,Rana M W Hasanato,Imran Ali Khan,Sarar Mohamed,Mohammed Yahya Al-Naami,May Salem Al-Nbaheen

doi:10.1186/1476-511x-12-177

Abstract

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.

Highlights

Familial hypercholesterolemia (FH, OMIM 143890) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated serum levels of total and lowdensity lipoprotein (LDL) cholesterol, the presence of tendon xanthomas and premature atherosclerosis [1]
A previous study by O'Malley et al [5] have shown an association with Familial Hypercholesterolemia (FH) patients who have myocardial infarction (MI) and coronary heart disease (CHD) [5]
The aim of this study was to analyze whether the angiotensin converting enzyme (ACE) gene I/D polymorphism is associated with the FH patients in Saudi population

Summary

Introduction

Familial hypercholesterolemia (FH, OMIM 143890) is an inherited disorder of lipoprotein metabolism, transmitted in an autosomal dominant manner and clinically characterized by elevated serum levels of total and lowdensity lipoprotein (LDL) cholesterol, the presence of tendon xanthomas and premature atherosclerosis [1]. Gene polymorphisms are markers of biologic diversity, and some genotypic variations correlate with specific phenotypes relevant to the human diseases. It is not clear whether many of these variants are involved in the pathogenesis of diseases or are merely in proximity to other pathogenic genetic factors-a phenomenon known as linkage disequilibrium. Angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is responsible for inter individual differences in ACE plasma levels. 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

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Discussion

Conclusion