title: Polymorphisms of the promoter and exon 3 of the receptor for advanced glycation end products (RAGE) in Euro- and Afro-Brazilians.
abstract: 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.
authors: Department of Biochemistry and Molecular Biology, Federal University of Parana, Curitiba, Parana, Brazil.
authors: M C
authors: MC
authors: Torres
authors: M H
authors: MH
authors: Beltrame
authors: I C R
authors: IC
authors: Santos
authors: G
authors: G
authors: Picheth
authors: M L
authors: ML
authors: Petzl-Erler
authors: F O
authors: FO
authors: Pedrosa
authors: M B R
authors: MB
authors: Steffens
authors: E M
authors: EM
authors: de Souza
mesh_terms: D000483:Alleles; D001483:Base Sequence; D044383:Black People / Q000235:genetics; D001938:Brazil / Q000208:ethnology; D005091:Exons; D005787:Gene Frequency; D005828:Genetics, Population; D060005:Genotyping Techniques; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic / Q000235:genetics*; D017384:Sequence Deletion; D044465:White People / Q000235:genetics
chemical_list: D000067759:Receptor for Advanced Glycation End Products; D011971:Receptors, Immunologic