Abstract
Apolipoprotein E (ApoE) is one of the most extensively studied genes in the context of aging, but there are few population-based studies on ApoE polymorphism in the elderly in developing countries. The objective of the present study was to assess ApoE allele and genotype distribution in a large elderly community-based sample and its association with age, sex and skin color. Participants included 1408 subjects (80.8% of all residents aged (3)60 years) residing in Bambuí city, MG, Brazil. The DNA samples were subjected to the polymerase chain reaction amplification, followed by the restriction fragment length polymorphism technique, with digestion by HhaI. Analysis was carried out taking into consideration the six ApoE genotypes (e3/e3, e3/e4, e2/e3, e4/e4, e2/e4, and e2/e2), the three ApoE alleles, and the number of ApoE4 alleles for each individual. The e3 allele predominated (80.0%), followed by e4 (13.5%) and e2 (6.5%). All six possible genotypes were observed, the e3/e3 genotype being the most frequent (63.4%). This distribution was similar to that described in other western populations. Sex was not associated with number of ApoE4 alleles. Black skin color was significantly and independently associated with the presence of two ApoE4 alleles (age-sex adjusted OR = 7.38; 95%CI = 1.93-28.25), showing that the African-Brazilian elderly have a high prevalence of the e4 allele, as observed in blacks from Africa. No association between number of ApoE4 alleles and age was found, suggesting the absence of association of ApoE genotype with mortality in this population.
Highlights
The search for genes and mutations potentially linked to diseases and aging itself has revealed many candidates
The Apolipoprotein E (ApoE) gene is polymorphic, containing single-nucleotide polymorphisms, which are mutations leading to changes in a single nucleotide base in the DNA sequence of the gene, www.bjournal.com.br eventually causing changes in the amino acid sequence of the protein
The distribution of ApoE alleles was within Hardy-Table 1
Summary
The search for genes and mutations potentially linked to diseases and aging itself has revealed many candidates. ApoE has multiple other roles in addition to its role in lipid metabolism [10] and the presence of the ε4 allele has been consistently linked to the development of Alzheimer’s disease [11]. This allele has been associated with coronary heart disease [12, 13] and cerebrovascular disease [14,15] in some studies but not in others [16,17]. ApoE has been studied in the context of mortality, but the results of these studies are controversial [18,19,20,21,22,23,24]
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