Author(s):
Raposo, Mafalda 
; Dahmani, Yahya ; Silva, Francisca ; Tavares, M. ; Cymbron, Teresa ; Santos, Cristina ; Bettencourt, Conceição ; Ferin, Rita ; Correia, Cristina ; Pavão, Maria Leonor ; Lima, Manuela
Date: 2009
Persistent ID: http://hdl.handle.net/10400.3/2779
Origin: Repositório da Universidade dos Açores
Subject(s): Atherosclerosis; Lipid Profile; APOE Polymorphism
Description
European Human Genetics Conference 2009: Abstract P17.18 em Livro de Resumos. Austria Center Vienna, Vienna, Austria, Saturday, May 23 – Tuesday, May 26, 2009. The factors leading to a two-fold mortality rate from coronary artery disease (CAD) in the Azores, as compared to Mainland Portugal, have not been elucidated. Previous studies reported a population tendency for hypercholesterolemia, one of the main factors contributing to the development of atherosclerosis (AT), considered the primary cause of CAD. Apolipoprotein E has a key role in plasma lipid metabolism, given its function as a ligand for cell-surface receptor mediated uptake of lipoproteins. Polymorphism in the apolipoprotein gene (APOE) results in three major isoforms encoded by three codominant alleles (E2, E3 and E4). With the purpose of establishing the pattern of variation at the APOE locus and determining its association with lipid profile, we studied a random sample of 298 unrelated, apparently healthy individuals of Azorean origin. In nearly 50% of the sample total cholesterol (TC) was above 200mg/dl; in 25% of the individuals LDL-cholesterol (LDL-C) was higher than 130 mg/dl. Allele frequencies were 0.0833, 0.8317 and 0.0850 for E2, E3 and E4, respectively. Genotype frequencies were higher for E3*E3 genotype (66.1%); genotype distribution displayed conformity with Hardy-Weinberg expectations. No differences in allelic frequencies were found in comparison with other Caucasian populations, namely with mainland Portugal. E3*E4 individuals presented the highest cholesterol levels. Analysis of variance performed with the most represented genotypes (E2*E3, E3*E3 and E3*E4) revealed a clear association between the genotypic composition and TC, as well as LDL-C, thus confirming in this population, the role of APOE as one of the genetic determinants of AT.
