The receptor for advanced glycation end products (RAGE or AGER) is a multi-ligand member of the immunoglobulin superfamily of cell surface proteins that may be involved in several pathologies such as atherosclerosis and diabetes. The aim of this study was to determine the allele and genotype frequencies of RAGE polymorphisms of the promoter region (-429 T>C; -374 T>A and 63 bp deletion) and of the exon 3 (Gly®Ser in codon 82, G82S or GS) in a Brazilian population. Subjects and Methods. The population sample was divided into two groups, consisting of eighty Euro-Brazilians (men/women: 27.5%/72.5%; aged 40.3 ± 12.6 years) and seventy Afro-Brazilians (men/women: 52.5%/47.5%; aged 50.3 ± 17.3 years). The University Committee for Ethics in Human Research approved this study. The genotyping was performed by PCR-RFLP with the restriction enzymes Alu I (AG¯CT) and Tsp 509 I (¯AATT). The PCR fragments were separated by polyacrylamide gel electrophoresis and stained with ethidium bromide. Results. The genotype and allele frequencies for the Euro-Brazilians were: -429 (74.7% T/T, 24.0% T/C, 1.3% C/C and T;C = 0.867;0.133), -374 (40.8% T/T, 50.0% T/A, 9.2 A/A % and T;A = 0.658;0.342), G82S (95.8% G/G, 4.2% G/S and G;S = 0.979;0.021), and for the Afro-Brazilians were -429 (76.8% T/T, 21.7% T/C, 1.45% C/C and T;C = 0.877;0.123), -374 (59.1% T/T, 34.8% T/A, 6.1% A/A and T;A = 0.765;0.235), G82S (98.7% G/G, 1.3% G/S and G;S = 0.993;0.007). The genotype frequencies met Hardy-Weinberg equilibrium expectations in both sub-populations for all the polymorphisms analyzed (P > 0.45). Heterozygotes for a 63 bp deletion were detected in five samples (7.1%) all in the Afro-Brazilian group. Conclusion. The genotype and allele frequencies of the polymorphisms of -429 T>C and G82S were similar within the two groups. The Afro-Brazilians showed a lower frequency of allele -374A when compared to Euro-Brazilians (c² = 4.20; P = 0.040). This is the first description of these polymorphisms in a healthy Brazilian population.
Supported by CNPq/MCT.