The receptor for advanced glycation end products (RAGE or AGER), a member of the immunoglobulin superfamily, is involved in pathologies such as atherosclerosis and diabetes. Over 50 SNPs were reported for RAGE, among which were the promoter region polymorphisms -429T>C (rs1800625), -374T>A (rs1800624) and a 63-bp deletion (-407 to -345 bp), all related to increased RAGE expression. Additionally, in the exon 3, a putative site of binding ligands, the missense variation G82S (rs2070600) was associated with skin disorders in patients with diabetes. We have determined allele, genotype and haplotype frequencies of RAGE polymorphisms -429T>C, -374T>A, 63-bp deletion and G82S in Euro-Brazilians (n = 108) and Afro-Brazilians (n = 91), characterized according to the predominant ancestry of the individuals. The allele frequencies for Euro- and Afro-Brazilians were as follows: -429C, 12.5% vs. 12.1% (P = 0.90); -374A, 31.5% vs. 26.2% (P = 0.25); 63del, 0.0% vs. 3.8% (P = 0.004); and 82S, 1.9% vs. 0.6% (P = 0.24). Absolute linkage disequilibrium was found between the promoter polymorphisms -429T>C and -374T>A plus the 63-bp deletion (D'=1.000; P < 0.0001). The haplotype frequencies differed (P = 0.003) between Euro- and Afro-Brazilians. Our results showed that the frequencies of the 63-bp deletion were higher in Afro-Brazilians, while the other analysed polymorphisms were similarly distributed in the studied populations. The -374T>A plus 63-bp deletion polymorphism captures more than 80% of the haplotypic variation in the studied population.
© 2011 Blackwell Publishing Ltd.