title: Distribution of APOE polymorphism in the "Paisa" population from northwest Colombia (Antioquia).
abstract: BACKGROUND
  The apolipoprotein E (APOE) gene plays a pivotal role in cholesterol metabolism. Since the discovery of the APOE*2 and APOE*4 as the major susceptibility alleles for several diseases including dyslipidemia, atherosclerosis, coronary heart disease, late-onset and early Alzheimer's disease, the APOE genotype might be considered as a potential predictive factor for both epidemiological research and diagnosis.
  
  
  OBJECTIVE
  The aim of this study is to report on the polymorphism of the APOE gene in the "Paisa" population from northwest Colombia (Antioquia) to obtain a population baseline of the existing variation in this locus.
  
  
  METHODS
  One thousand and one healthy voluntaries were genotyped for the APOE polymorphism using polymerase chain reaction-restriction fragment length polymorphism technique.
  
  
  RESULTS
  The APOE*3/*3 genotype presented the highest frequency (66.33%) and the APOE*4/*4 had the lowest frequency (1.89%). Genotype frequencies comply with Hardy-Weinberg expectations. Allele frequencies obtained for APOE*2, APOE*3 and APOE*4 were 0.075 ± 0.005 (95% CI = 0.063-0.086), 0.814 ± 0.009 (0.797-0.831) and 0.111 ± 0.007 (0.098-0.125), respectively.
  
  
  CONCLUSIONS
  Although globally the high-to-low APOE frequency follows the E*3 > E*4 > E*2 trend, the present APOE frequency data is in disagreement with some reports from South-American countries.
authors.affiliation: Neuroscience Research Group, Medical Research Institute, Faculty of Medicine and.
authors.forename: Carlos
authors.initials: C
authors.lastname: Velez-Pardo
authors.forename: Winston
authors.initials: W
authors.lastname: Rojas
authors.forename: Marlene
authors.initials: M
authors.lastname: Jimenez-Del-Rio
authors.forename: Gabriel
authors.initials: G
authors.lastname: Bedoya
mesh_terms: D001057:Apolipoproteins E / Q000235:genetics*; D003105:Colombia; D005787:Gene Frequency; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D001057:Apolipoproteins E
keywords: APOE; apolipoprotein; genetic distance; paisa; polymorphism