Estudo do polimorfismo Ser49Gly do gene do receptor beta adrenérgico 1 (β-adr 1) na população do estado do Rio de Janeiro, Brasil estratificada por cor da pele e ancestralidade genômica

Abstract

Cardiovascular diseases have the highest death rate in the world, and notably in recent years genetic research about them are based on association studies, in which the gene suspected to be at a higher frequency among patients is now considered a possible causal factor. Genetic polymorphisms that occur in the beta adrenergic receptor can result in significant changes in the receptor function that may trigger physiopathologies. The main aim of this study was to estimate the diversity and the frequency of Ser49Gly polymorphism of Βeta adrenergic 1 receptor gene in a sample of 188 individuals of the population of Rio de Janeiro. The frequencies were also analyzed from the sample stratification by phenotypic criteria due to skin color pattern (blacks and non-blacks) or by genetic ancestry (African descent and non-African descent), defined by ancestry information SNP and Indels markers from Y chromosome, to evaluate whether the ancestry criteria and/or skin color are crucial to the pattern of differentiation and genetic distance. Fragments of interest were amplified by PCR (polymerase chain reaction) with specific primers for the marker Ser49Gly and genotyping reactions performed by restriction with the enzyme Eco0109I. The values of heterozygosity ranged from 0.25 to 0.50 and 0.20 to 0.41 in the groups stratified by ancestry and skin color, respectively. Regarding the analysis of EHW, there was no significant deviation from this marker genotype distribution in Rio de Janeiro sample or even the stratified sample. The distribution of alleles in the sample of 188 individuals from the general population of Rio de Janeiro (AC_RJ) shows a frequency of 80.30% and 19.70% for the wild-type allele mutated Ser49 and Gly49, respectively. The comparison analysis showed the occurrence of significant differences in the distribution of allele frequencies of this marker between blacks and non-blacks and African descent and non-African descent. A significant difference was also observed between blacks and African descent, with a lesser degree of detachment. The information obtained in relation to ancestry was crucial for obtaining data on the increase in variable mutated polymorphism Ser49Gly in the black populations and African descent in Rio de Janeiro State. Such evidence, in combination with clinical studies may contribute to a detailed analysis of the pattern of susceptibility to disease involved in mechanism crashes of this receptor.