CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population.

dc.contributor.authorSantos, Paulo Caleb Júnior de Lima
dc.contributor.authorSoares, Renata A. G.
dc.contributor.authorSantos, Diogo B. G.
dc.contributor.authorNascimento Neto, Raimundo Marques do
dc.contributor.authorCoelho, George Luiz Lins Machado
dc.contributor.authorNicolau, José Carlos
dc.contributor.authorMill, José Geraldo
dc.contributor.authorKrieger, José Eduardo
dc.contributor.authorPereira, Alexandre da Costa
dc.date.accessioned2014-11-11T19:25:51Z
dc.date.available2014-11-11T19:25:51Z
dc.date.issued2011
dc.description.abstractBackground: Recent studies have reported the clinical importance of CYP2C19 and ABCB1 polymorphisms in an individualized approach to clopidogrel treatment. The aims of this study were to evaluate the frequencies of CYP2C19 and ABCB1 polymorphisms and to identify the clopidogrel-predicted metabolic phenotypes according to ethnic groups in a sample of individuals representative of a highly admixtured population. Methods: One hundred and eighty three Amerindians and 1,029 subjects of the general population of 4 regions of the country were included. Genotypes for the ABCB1c.C3435T (rs1045642), CYP2C19*2 (rs4244285), CYP2C19*3 (rs4986893), CYP2C19*4 (rs28399504), CYP2C19*5 (rs56337013), and CYP2C19*17 (rs12248560) polymorphisms were detected by polymerase chain reaction followed by high resolution melting analysis. The CYP2C19*3, CYP2C19*4 and CYP2C19*5 variants were genotyped in a subsample of subjects (300 samples randomly selected). Results: The CYP2C19*3 and CYP2C19*5 variant alleles were not detected and the CYP2C19*4 variant allele presented a frequency of 0.3%. The allelic frequencies for the ABCB1c.C3435T, CYP2C19*2 and CYP2C19*17 polymorphisms were differently distributed according to ethnicity: Amerindian (51.4%, 10.4%, 15.8%); Caucasian descent (43.2%, 16.9%, 18.0%); Mulatto (35.9%, 16.5%, 21.3%); and African descent (32.8%, 20.2%, 26.3%) individuals, respectively. As a result, self-referred ethnicity was able to predict significantly different clopidogrel-predicted metabolic phenotypes prevalence even for a highly admixtured population. Conclusion: Our findings indicate the existence of inter-ethnic differences in the ABCB1 and CYP2C19 variant allele frequencies in the Brazilian general population plus Amerindians. This information could help in stratifying individuals from this population regarding clopidogrel-predicted metabolic phenotypes and design more costeffective programs towards individualization of clopidogrel therapy.pt_BR
dc.identifier.citationSANTOS, P. C. J. L. et al. CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population. BMC Medical Genetics, v. 12, p. 13, 2011. Disponível em: <http://www.biomedcentral.com/1471-2350/12/13>. Acesso em: 01 set. 2014.pt_BR
dc.identifier.doihttps://doi.org/10.1186/1471-2350-12-13
dc.identifier.issn1471-2350
dc.identifier.urihttp://www.repositorio.ufop.br/handle/123456789/3782
dc.language.isoen_USpt_BR
dc.rights.licenseThis is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Fonte: BMC Medical Genetics <http://www.biomedcentral.com/1471-2350/12/13 >. Acesso em: 01 set. 2014.pt_BR
dc.titleCYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population.pt_BR
dc.typeArtigo publicado em periodicopt_BR
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