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.

• APOE
• apolipoprotein
• genetic distance
• paisa
• polymorphism

Acknowledgements

This investigation was supported by Colciencias grants #1115-041-8113 to CVP and MJdR. We greatly acknowledge I. C. Avila-Gomez and F. Peña-Rivera for technical assistance and C. Aguirre-Acevedo for statistical analysis. We thank Dr I. F. Mata (University of Washington) for his valuable comments and constructive suggestions on the manuscript.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.