Interethnic diversity of NAT2 polymorphisms in Brazilian admixed populations
Open Access
- 5 October 2010
- journal article
- Published by Springer Science and Business Media LLC in BMC Genomic Data
- Vol. 11 (1), 87
- https://doi.org/10.1186/1471-2156-11-87
Abstract
N-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. Overall, 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. Our 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.Keywords
This publication has 44 references indexed in Scilit:
- Glutathione S-Transferase Variants in a Brazilian PopulationPharmacology, 2009
- Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary historyBMC Genomic Data, 2008
- Genetic profile of the arylamine N-acetyltransferase 2 coding gene among individuals from two different regions of BrazilMutation Research, 2007
- Functional characterization of single-nucleotide polymorphisms and haplotypes of human N-acetyltransferase 2Carcinogenesis: Integrative Cancer Research, 2007
- Analysis of nucleotide diversity of NAT2 coding region reveals homogeneity across Native American populations and high intra-population diversityThe Pharmacogenomics Journal, 2006
- Haploview: analysis and visualization of LD and haplotype mapsBioinformatics, 2004
- Pedigree disequilibrium tests for multilocus haplotypesGenetic Epidemiology, 2003
- 3D Model of Human Arylamine N-Acetyltransferase 2: Structural Basis of the Slow Acetylator Phenotype of the R64Q Variant and Analysis of the Active-Site LoopBiochemical and Biophysical Research Communications, 2002
- Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populationsPharmacogenetics, 1996
- Preliminary phenotypic map of chromosome 4p16 based on 4p deletionsAmerican Journal of Medical Genetics, 1995