Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations

BMC Genetics

Research Article

Jhimmy Talbot¹  Giuliano Di Pietro¹  Cinthia VN Santana¹  Ronan X Correa¹  Paulo RS Melo¹  Sandra MB Sousa¹  Fabrício Rios-Santos¹  Luiz Alexandre V Magno² 

[1] Laboratório de Farmacogenômica e Epidemiologia Molecular (LAFEM), Universidade Estadual de Santa Cruz, Ilhéus, Bahia, Brazil;Laboratório de Farmacogenômica e Epidemiologia Molecular (LAFEM), Universidade Estadual de Santa Cruz, Ilhéus, Bahia, Brazil;INCT de Medicina Molecular, Faculdade de Medicina, Universidade Federal de Minas Gerais, Brazil;

关键词: Multiple Logistic Regression Analysis;    191A Allele;    Slow Acetylator;    Restriction Fragment Length Polymorphism;    Acetylator Phenotype;   

DOI  :  10.1186/1471-2156-11-87

 received in 2010-05-09, accepted in 2010-10-05,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundN-acetyltransferase type 2 (Nat2) is a phase II drug- metabolizing enzyme that plays a key role in the bioactivation of aromatic and heterocyclic amines. Its relevance in drug metabolism and disease susceptibility remains a central theme for pharmacogenetic research, mainly because of its genetic variability among human populations. In fact, the evolutionary and ethnic-specific SNPs on the NAT2 gene remain a focus for the potential discoveries in personalized drug therapy and genetic markers of diseases. Despite the wide characterization of NAT2 SNPs frequency in established ethnic groups, little data are available for highly admixed populations. In this context, five common NAT2 SNPs (G191A, C481T, G590A, A803G and G857A) were investigated in a highly admixed population comprised of Afro-Brazilians, Whites, and Amerindians in northeastern Brazil. Thus, we sought to determine whether the distribution of NAT2 polymorphism is different among these three ethnic groups.ResultsOverall, there were no statistically significant differences in the distribution of NAT2 polymorphism when Afro-Brazilian and White groups were compared. Even the allele frequency of 191A, relatively common in African descendents, was not different between the Afro-Brazilian and White groups. However, allele and genotype frequencies of G590A were significantly higher in the Amerindian group than either in the Afro-Brazilian or White groups. Interestingly, a haplotype block between G590A and A803G was verified exclusively among Amerindians.ConclusionsOur results indicate that ethnic admixture might contribute to a particular pattern of genetic diversity in the NAT2 gene and also offer new insights for the investigation of possible new NAT2 gene-environment effects in admixed populations.

【 授权许可】

Unknown   
© Talbot et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This 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.