Haplotype structure of five SNPs within the ACE gene in the Tunisian population

Background: The Angiotensin-Converting Enzyme (ACE) is a candidate gene in the aetiology of several common diseases. The study of the haplotype structure of this gene is of interest in diagnosis and in pharmacogenomics. Aim: The study investigated the haplotype profile of single nucleotide polymorph...

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Bibliographic Details
Published in:Annals of human biology 2006-05, Vol.33 (3), p.319-329
Main Authors: Rebaï, Maha, Kharrat, Najla, Ayadi, Imen, Rebaï, Ahmed
Format: Article
Language:English
Subjects:
ACE
Adult
Female
Genetics, Population
haplotype
Haplotypes
Humans
linkage disequilibrium
Linkage Disequilibrium - genetics
Male
Peptidyl-Dipeptidase A - genetics
Polymorphism, Single Nucleotide
SNP
Tunisia
Tunisian
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Summary:Background: The Angiotensin-Converting Enzyme (ACE) is a candidate gene in the aetiology of several common diseases. The study of the haplotype structure of this gene is of interest in diagnosis and in pharmacogenomics. Aim: The study investigated the haplotype profile of single nucleotide polymorphisms (SNPs) within the ACE gene in the Tunisian population and compared it with other populations. Subjects and methods: Five SNPs (rs1800764, rs4291, rs4309, rs4331, rs4340) covering a region of 15.6 kb of the ACE gene were typed by PCR-digestion in a sample of 100 healthy subjects. Results: All SNPs were polymorphic and in Hardy-Weinberg equilibrium. A total of 21 haplotypes were identified but only eight had a frequency of more than 1%. The four most common haplotypes had a cumulative frequency of 87.4%. The 'Yin-Yang' phenomenon (the two major haplotypes are complementary at all sites) was found. Linkage disequilibrium between all pairs of loci was highly significant (p
ISSN:0301-4460
1464-5033
DOI:10.1080/03014460600621977