巴西人群中 PXR 基因遗传多态性的频率。
Frequency of genetic polymorphisms of PXR gene in the Brazilian population.
机构信息
Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM 42, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
出版信息
Clinics (Sao Paulo). 2011;66(6):1041-4. doi: 10.1590/s1807-59322011000600020.
INTRODUCTION
PXR polymorphisms have been implicated in modulating CYP3A4 and PXR expression, potentially accounting for interindividual differences in drug metabolism. The prevalence of PXR polymorphisms varies among ethnic groups and data on the allelic distribution in the highly mixed Brazilian population is lacking. The aim of this study was to analyze genetic variations in the PXR gene in Brazilians and to compare the results to other ethnic groups.
METHODS
DNA samples from 117 healthy Brazilians underwent PCR amplification and sequencing.
RESULTS
Eleven polymorphisms were identified, 3 of which are highly associated with differences in CYP3A4 expression. We also identified 1 new synonymous variant in 1.3% of the alleles. Among the functional polymorphisms, -25913 C>T and -6994T>C occurred at a higher frequency comparedtothe Africanalleles (p < 0.05) but at a lower frequency compared to Caucasian alleles. The 8055 C>T allele was found at a similar frequency to those described in Caucasians and Africans (p > 0.05).
CONCLUSION
We observed that functional variants of the PXR were frequent in our sample of the Brazilian population. Our results suggest that PXR gene variants may be of interest in pharmacogenetic studies involving Brazilians.
简介
PXR 多态性与 CYP3A4 和 PXR 表达的调节有关，可能导致药物代谢的个体间差异。PXR 多态性的流行率在不同种族之间存在差异，而关于高度混合的巴西人群中等位基因分布的数据尚缺乏。本研究旨在分析巴西人群中 PXR 基因的遗传变异，并将结果与其他种族进行比较。
方法
对 117 名健康巴西人的 DNA 样本进行 PCR 扩增和测序。
结果
鉴定出 11 种多态性，其中 3 种与 CYP3A4 表达的差异高度相关。我们还在 1.3%的等位基因中发现了 1 种新的同义变体。在功能性多态性中，-25913 C>T 和 -6994T>C 的频率高于非洲等位基因（p < 0.05），但低于白种人等位基因。8055 C>T 等位基因的频率与白种人和非洲人描述的频率相似（p > 0.05）。
结论
我们观察到，我们的巴西人群样本中 PXR 的功能性变体很常见。我们的结果表明，PXR 基因变异可能在涉及巴西人的药物遗传学研究中具有重要意义。
Zotero 插件