罗姆人和匈牙利人群样本中 CYP1A2 基因启动子和内含子区域的遗传多态性。
Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples.
机构信息
Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.
Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
出版信息
Environ Toxicol Pharmacol. 2014 Nov;38(3):814-20. doi: 10.1016/j.etap.2014.09.012. Epub 2014 Sep 28.
The purpose of this study was to determine the interethnic differences of four CYP1A2 drug metabolizing enzyme variants. A total of 404 Roma and 396 Hungarian healthy subjects were genotyped for -163C>A, -729C>T, -2467delT and -3860G>A variants of CYP1A2 by RT-PCR and PCR-RFLP technique. The -3860A and -729T allele were not detectable in Roma samples, while in Hungarian samples were present with 2.02% and 0.25% prevalence, respectively. There was a 1.5-fold difference in presence of homozygous -163AA genotype between Hungarian and Roma samples (49.5% vs. 31.9%, p<0.001). The -163A allele frequency was 68.6% in Hungarians and 56.9% in Romas (p=0.025). The -2467delT allele frequency was 6.81% in Roma group and 5.81% in Hungarians. The most frequent allelic constellation was -3860G/-2467T/-729C/-163A in both populations. In conclusion, Hungarians have markedly elevated chance for rapid metabolism of CYP1A2 substrates, intensified procarcinogen activation and increased risk for cancers.
本研究旨在确定四种 CYP1A2 药物代谢酶变体的种族间差异。通过 RT-PCR 和 PCR-RFLP 技术，对 404 名罗姆人和 396 名匈牙利健康受试者进行了 CYP1A2-163C>A、-729C>T、-2467delT 和-3860G>A 变体的基因分型。在罗姆人样本中未检测到-3860A 和-729T 等位基因，而在匈牙利人样本中，它们的患病率分别为 2.02%和 0.25%。匈牙利人和罗姆人样本中纯合子-163AA 基因型的存在存在 1.5 倍的差异（49.5%对 31.9%，p<0.001）。匈牙利人-163A 等位基因频率为 68.6%，罗姆人-163A 等位基因频率为 56.9%（p=0.025）。-2467delT 等位基因频率在罗姆人组为 6.81%，在匈牙利人为 5.81%。在两个群体中，最常见的等位基因组合是-3860G/-2467T/-729C/-163A。总之，匈牙利人快速代谢 CYP1A2 底物、增强前致癌物激活和癌症风险增加的机会明显增加。
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