Effects of ethnicity on the distribution of genetic polymorphisms and haplotypes in vascular endothelial growth factor / Efeitos da etnicidade sobre a distribuição de polimorfismos geneticos e haplotipos do fator de crescimento endotelial vascular

AUTOR(ES)
DATA DE PUBLICAÇÃO

2009

RESUMO

Vascular Endothelial Growth Factor (VEGF, or also known as VEGF-A) is a homodimeric glycoprotein of 45kDa produced mostly in endothelial cells in hypoxic conditions. VEGF leads to proliferation, migration and survival of endothelial cells, plays an important role in regulating vascular permeability and angiogenesis, both physiological and pathophysiological and other biological characteristics such as vasodilation, vasculogenesis and vascular homeostasis. While many Single Nucleotides Polimporphisms (SNPs) are present in the VEGF gene, three clinically significant SNPs in the promoter region of the gene (C-2578A, G-1154A and G-634C) have been associated with cardiovascular diseases, however inconsistent associations have been found between these polymorphisms and cardiovascular diseases. These differences may be a consequence of ethnic diversity, which leads to a distinct distribution of VEGF gene variants between ethnic groups. Although some studies suggest difference in the distribution of these SNPs, no previous study has examined this hypothesis in admixed populations. We examined the distribution of these three SNPs in 175 white and 185 black Brazilian subjects, we have also evaluated haplotype distribution and the association between variants of these SNPs. The C-2578 and G-1154 alleles were more frequent in black subjects than in white (71% and 61% respectively), while for the G-634C SNP no differences in allele and genotype frequencies were found between the two ethnic groups. The haplotype containing the alleles C-2578/G-1154/ G-634 was the most common in both ethnic groups and was more common in blacks compared to whites. The haplotype containing the alleles C-2578/A-1154/C-634 and the haplotype containing the alleles C-2578/A-1154/G-634 were more frequent in whites compared to blacks. These results showed differences in the distribution of clinically relevant genetic variants and haplotypes of VEGF gene when whites and blacks are compared. These differences may explain, at least in part, the inconsistent results in studies of association of these SNPs with cardiovascular disease, and ethnic disparities in susceptibility to cardiovascular disease

ASSUNTO(S)

vegf grupos etnicos haplotype ethnic group haplotipos

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