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 -345bp), 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.
CITATION STYLE
Torres, M. C., Beltrame, M. H., Santos, I. C. R., Picheth, G., Petzl-Erler, M. L., Pedrosa, F. O., … de Souza, E. M. (2012). Polymorphisms of the promoter and exon 3 of the receptor for advanced glycation end products (RAGE) in Euro- and Afro-Brazilians. International Journal of Immunogenetics, 39(2), 155–160. https://doi.org/10.1111/j.1744-313X.2011.01073.x
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