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.

AIM:

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.

METHOD:

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.

CONCLUSION:

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: Carlos Velez-Pardo, Winston Rojas, Marlene Jimenez-Del-Rio, Gabriel Bedoya
• Journal: Annals of human biology (Ann Hum Biol) Vol. 42 Issue 2 Pg. 195-8 (Mar 2015) ISSN: 1464-5033 [Electronic] England
• PMID: 25026367 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Apolipoproteins E

Topics

• Apolipoproteins E (genetics)
• Colombia
• Gene Frequency
• Humans
• Polymerase Chain Reaction
• Polymorphism, Genetic