Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian populationReport as inadecuate

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BMC Research Notes

, 7:194

First Online: 28 March 2014Received: 22 January 2013Accepted: 21 March 2014DOI: 10.1186-1756-0500-7-194

Cite this article as: Atadzhanov, M., Mwaba, M.H., Mukomena, P.N. et al. BMC Res Notes 2014 7: 194. doi:10.1186-1756-0500-7-194


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.

KeywordsSub-Saharan Africa Zambia Frequency APOE MTHFR ACE polymorphisms AbbreviationsSSASub-Saharan Africa

APOEApolipoprotein E

MTHFRMethylenetetrahydrofolate reductase

ACE I-DAngiotensin I-converting enzyme insertion-deletion

CVDCerebrovascular disease

CADCoronary artery disease

ADAlzheimer’s disease

DNADeoxyribonucleic acid

HWEHardy-Weinberg equilibrium

MDSMultidimensional Scaling.

Electronic supplementary materialThe online version of this article doi:10.1186-1756-0500-7-194 contains supplementary material, which is available to authorized users.

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Author: Masharip Atadzhanov - Mwila H Mwaba - Patrice N Mukomena - Shabir Lakhi - Peter Mwaba - Sruti Rayaprolu - James F Meschi


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