Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population

Masharip Atadzhanov,Shabir Lakhi,Patrice N Mukomena,James F Meschia,Owen A Ross,Mwila H Mwaba,Peter Mwaba,Sruti Rayaprolu

doi:10.1186/1756-0500-7-194

Masharip Atadzhanov, Shabir Lakhi + Show 6 more

Open Access

https://doi.org/10.1186/1756-0500-7-194

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Abstract

BackgroundPolymorphisms within the apolipoprotein-E (APOE), Methylenetetrahydrofolate reductase (MTHFR) and Angiotensin I-converting enzyme (ACE) genes has been associated with cardiovascular and cerebrovascular disorders, Alzheimer’s disease and other complex diseases in various populations. The aim of the study was to analyze the allelic and genotypic frequencies of APOE, MTHFR C677T and ACE I/D gene polymorphisms in the Zambian population.ResultsThe allele frequencies of APOE polymorphism in the Zambian populations were 13.8%, 59.5% and 26.7% for the ε2, ε3 and ε4 alleles respectively. MTHFR C677T and ACE I/D allele frequencies were 8.6% and 13.8% for the T and D minor alleles respectively. The ε2ε2 genotype and TT genotype were absent in the Zambian population. The genetic distances between Zambian and other African and non-African major populations revealed an independent variability of these polymorphisms.ConclusionWe found that the APOE ε3 allele and the I allele of the ACE were significantly high in our study population while there were low frequencies observed for the MTHFR 677 T and ACE D alleles. Our analysis of the APOE, MTHFR and ACE polymorphisms may provide valuable insight into the understanding of the disease risk in the Zambian population.

Highlights

Polymorphisms within the apolipoprotein-E (APOE), Methylenetetrahydrofolate reductase (MTHFR) and Angiotensin I-converting enzyme (ACE) genes has been associated with cardiovascular and cerebrovascular disorders, Alzheimer’s disease and other complex diseases in various populations
In this study we have evaluated the prevalence of APOE, MTHFR, and ACE gene polymorphisms in the Zambian population and compared those frequencies with African and other populations to provide baseline epidemiological data for future clinical investigations of cerebrovascular disease (CVD), coronary artery disease (CAD), Alzheimer’s disease (AD), and other diseases in Zambia
The distribution of MTHFR and APOE genotypes conformed to Hardy-Weinberg equilibrium (HWE) with p = 0.540 and p = 0.456 respectively, while the ACE allele distribution was not according to HWE (p = 0.005) due to an increase in rare minor allele homozygotes

Summary

Introduction

Polymorphisms within the apolipoprotein-E (APOE), Methylenetetrahydrofolate reductase (MTHFR) and Angiotensin I-converting enzyme (ACE) genes has been associated with cardiovascular and cerebrovascular disorders, Alzheimer’s disease and other complex diseases in various populations. One of the challenges for translating disease associated polymorphisms into clinical application is the lack of knowledge regarding the frequency of the polymorphism in the targeted population. Methylenetetrahydrofolate reductase (MTHFR) and Angiotensin I-converting enzyme (ACE), have been studied in relation to age-related disorders Specific polymorphisms in these genes have been implicated in various complex disorders including cerebrovascular disease (CVD), coronary artery disease (CAD) and Alzheimer’s disease (AD) [4,5,6,7]

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