Rabstein Sylvia, Unfried Klaus, Ranft Ulrich, Illig Thomas, Kolz Melanie, Rihs Hans-Peter, Mambetova Chinara, Vlad Mariana, Brüning Thomas, Pesch Beate
Berufsgenossenschaftliches Forschungsinstitut für Arbeitsmedizin, Institute of Ruhr University of Bochum, Bürkle-de-la-Camp-Platz 1, D-44789 Bochum, Germany.
Cancer Epidemiol Biomarkers Prev. 2006 Jan;15(1):138-41. doi: 10.1158/1055-9965.EPI-05-0256.
As part of a project on environmental disasters in minority populations, this study aimed to evaluate differences in the sequence of N-acetyltransferase 2 (NAT2) as a metabolic susceptibility gene in yet unexplored ethnicities. Eight single nucleotide polymorphisms (SNP) in the NAT2 coding region and a variant in the 3' flanking region were analyzed in 290 unrelated Kyrgyz and 140 unrelated Romanians by SNP-specific PCR analysis. The variants 341C, 481T, and 803G were less and 857A more prevalent in Kyrgyz (P < 0.0001). The variant at site 857 indicates Asian descent. 282C>T and 590G>A showed no significant variation by ethnicity. 364G>A and 411A>T turned out to be monomorphic. Database comparisons of the NAT2 minor allele frequencies support that Romanians belong to Caucasians and Kyrgyz are in between Caucasians and East Asians. The distributions of predicted haplotypes differed significantly between the two ethnicities where the Kyrgyz showed a higher genetic diversity. The haplotype without mutations was more common in Kyrgyz (40.1% in Kyrgyz, 29.3% in Romanians). Accordingly, the imputed slow acetylator phenotype was less prevalent in Kyrgyz (35.2% versus 51.4% in Romanians). We found pronounced ethnic differences in NAT2 genotypes with yet unknown effect on the health risks for environmental or occupational exposures in minority populations.
作为一项关于少数民族环境灾害项目的一部分，本研究旨在评估N - 乙酰转移酶2（NAT2）作为代谢易感性基因在尚未被探索的种族中的序列差异。通过单核苷酸多态性（SNP）特异性PCR分析，对290名无亲缘关系的吉尔吉斯人和140名无亲缘关系的罗马尼亚人分析了NAT2编码区的8个单核苷酸多态性（SNP）和3'侧翼区的一个变体。341C、481T和803G变体在吉尔吉斯人中较少见，而857A变体更常见（P < 0.0001）。857位点的变体表明有亚洲血统。282C>T和590G>A在不同种族间无显著差异。364G>A和411A>T结果显示为单态性。NAT2次要等位基因频率的数据库比较支持罗马尼亚人属于高加索人，而吉尔吉斯人介于高加索人和东亚人之间。两种族之间预测单倍型的分布有显著差异，吉尔吉斯人显示出更高的遗传多样性。无突变的单倍型在吉尔吉斯人中更常见（吉尔吉斯人中为40.1%，罗马尼亚人中为29.3%）。因此，推测的慢乙酰化酶表型在吉尔吉斯人中不太常见（吉尔吉斯人中为35.2%，罗马尼亚人中为51.4%）。我们发现NAT2基因型存在明显的种族差异，但其对少数民族环境或职业暴露健康风险的影响尚不清楚。
