Apolipoprotein E/C1/C4/C2 gene cluster diversity in two native Andean populations: Aymaras and Quechuas.

摘要: The APOE/C1/C4/C2 gene cluster presents high relevance in lipid metabolism and, therefore, has important epidemiological implications. Here, we study for the first time variation patterns of 25 polymorphisms (10 short tandem repeats, STRs, and 15 single nucleotide polymorphismas, SNPs) two native Andean samples from Bolivia (45 Aymaras 45 Quechuas) as well one European sample (n = 41) external reference. We estimated diversity parameters, linkage disequilibrium patterns, population structure, possible selective effects. In general, was low could be partly attributed to selection (probably due its physiological importance), since region highly conserved compared flanking genes both Bolivians Europeans. Moreover, lower Europeans some markers might indicate different demographic histories. Regarding APOE isoforms, addition ɛ3 (94%) ɛ4 (5%), isoform ɛ2 (1%) also detected Bolivians. relation previous hypotheses, our results support that genetic drift or founder effects rather than increased cholesterol absorption are main factors have shaped distribution isoforms observed South America.