Departamento de Genética, Universidade Federal do Paraná, Curitiba, PR Brazil.
Genet Mol Biol. 2009 Oct;32(4):723-8. doi: 10.1590/S1415-47572009005000087. Epub 2009 Dec 1.
Individual variability in xenobiotic metabolism has been associated with susceptibility to developing complex diseases. Genes involved in xenobiotic metabolism have been evaluated in association studies; the difficulty of obtaining accurate gene frequencies in mixed populations makes interpretation of the results difficult. We sought to estimate population parameters for the cytochrome P450 and glutathione S-transferase gene families, thus contributing to studies using these genes as markers. We describe the frequencies of six genes (CYP1A1, CYP2D6, CYP2E1, GSTM1, GSTT1, and GSTP1) and estimate population parameters in 115 Euro-descendants and 196 Afro-descendants from Curitiba, South of Brazil. PCR-based methods were used for genotyping, and statistical analysis were performed by AMOVA with ARLEQUIN software. The mutant allele frequencies in the Afro-descendants and Euro-descendants, respectively, were: CYP1A12A = 30.1% and 15.2%; CYP2D64 = 14.5% and 21.5%; CYP2E15B = 7.9% and 5%; GSTP1B = 37.8% and 28.3%. The null genotype frequencies were: GSTM10 = 36.8% and 46.1%; GSTT10 = 24.2% and 17.4%.
个体对外源化学物质代谢的差异与易感性复杂疾病的发展有关。已在外源化学物质代谢相关研究中评估了涉及外源化学物质代谢的基因；在混合人群中获得准确基因频率的困难使得结果的解释变得困难。我们试图估计细胞色素 P450 和谷胱甘肽 S-转移酶基因家族的群体参数，从而为使用这些基因作为标记的研究做出贡献。我们描述了来自巴西库里蒂巴的 115 名欧洲后裔和 196 名非裔巴西人的 6 个基因（CYP1A1、CYP2D6、CYP2E1、GSTM1、GSTT1 和 GSTP1）的频率，并估计了群体参数。基于 PCR 的方法用于基因分型，使用 AMOVA 和 ARLEQUIN 软件进行统计分析。非裔巴西人和欧洲后裔中的突变等位基因频率分别为：CYP1A12A = 30.1%和 15.2%；CYP2D64 = 14.5%和 21.5%；CYP2E15B = 7.9%和 5%；GSTP1B = 37.8%和 28.3%。纯合缺失基因型频率分别为：GSTM10 = 36.8%和 46.1%；GSTT10 = 24.2%和 17.4%。
