title: Frequency of APOE, MTHFR and ACE polymorphisms in the Zambian population.
abstract: BACKGROUND
  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. 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.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  We 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.
authors.affiliation: Department of Internal Medicine, University of Zambia, P,O,Box 51237, Lusaka, Zambia. masharip.atadzhanov@gmail.com.
authors.forename: Masharip
authors.initials: M
authors.lastname: Atadzhanov
authors.forename: Mwila H
authors.initials: MH
authors.lastname: Mwaba
authors.forename: Patrice N
authors.initials: PN
authors.lastname: Mukomena
authors.forename: Shabir
authors.initials: S
authors.lastname: Lakhi
authors.forename: Peter
authors.initials: P
authors.lastname: Mwaba
authors.forename: Sruti
authors.initials: S
authors.lastname: Rayaprolu
authors.forename: James F
authors.initials: JF
authors.lastname: Meschia
authors.forename: Owen A
authors.initials: OA
authors.lastname: Ross
mesh_terms: D000328:Adult; D000483:Alleles; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics*; D044383:Black People; D002318:Cardiovascular Diseases / Q000208:ethnology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D059645:Mutation Rate; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors; D015024:Zambia
chemical_list: D001057:Apolipoproteins E; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A