Distribution of APOE polymorphism in the "Paisa" population from northwest Colombia (Antioquia). (March 2015)

• Record Type: Journal Article
• Authors: Velez-Pardo, Carlos; Rojas, Winston; Jimenez-Del-Rio, Marlene; Bedoya, Gabriel
• Is Part Of: Annals of human biology. Volume 42:Number 2(2015:Mar./Apr.)
• Page Start: 195
• Page End: 198
• Publication Date: 2015-03
• Subjects: Human biology -- Periodicals; 612
• DOI: 10.3109/03014460.2014.932846
• Languages: English
• ISSNs: 0301-4460

Abstract

<abstract> <title>Abstract</title> <p> <italic>Background</italic>: The apolipoprotein E (<italic>APOE</italic>) gene plays a pivotal role in cholesterol metabolism. Since the discovery of the <italic>APOE*2</italic> and <italic>APOE*4</italic> as the major susceptibility alleles for several diseases including dyslipidemia, atherosclerosis, coronary heart disease, late-onset and early Alzheimer's disease, the <italic>APOE</italic> genotype might be considered as a potential predictive factor for both epidemiological research and diagnosis.</p> <p> <italic>Aim</italic>: The aim of this study is to report on the polymorphism of the <italic>APOE</italic> gene in the "Paisa" population from northwest Colombia (Antioquia) to obtain a population baseline of the existing variation in this locus.</p> <p> <italic>Method</italic>: One thousand and one healthy voluntaries were genotyped for the <italic>APOE</italic> polymorphism using polymerase chain reaction–restriction fragment length polymorphism technique.</p> <p> <italic>Results</italic>: The <italic>APOE*3/*3</italic> genotype presented the highest frequency (66.33%) and the <italic>APOE*4/*4</italic> had the lowest frequency (1.89%). Genotype frequencies comply with Hardy–Weinberg expectations. Allele frequencies obtained for <italic>APOE*2, APOE*3</italic> and <italic>APOE*4</italic> 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.</p> <p> <italic>Conclusion</italic>: Although globally the high-to-low <italic>APOE</italic> frequency follows the <italic>E*3</italic> > <italic>E*4</italic> > <italic>E*2</italic> trend, the present <italic>APOE</italic> frequency data is in disagreement with some reports from South-American countries.</p> </abstract>