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Polymorphisms of the promoter and exon 3 of the receptor for advanced glycation end products ( RAGE ) in Euro‐ and Afro‐Brazilians
Author(s) -
Torres M. C.,
Beltrame M. H.,
Santos I. C. R.,
Picheth G.,
PetzlErler M. L.,
Pedrosa F. O.,
Steffens M. B. R.,
de Souza E. M.
Publication year - 2012
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2011.01073.x
Subject(s) - haplotype , single nucleotide polymorphism , exon , linkage disequilibrium , allele , glycation , rage (emotion) , genetics , genotype , missense mutation , biology , intron , gene , polymorphism (computer science) , receptor , promoter , genetic variation , microbiology and biotechnology , mutation , gene expression , neuroscience
Summary 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.