Liu Wei, Zhou Li, Wang Hongju, Zheng Bo, Wu Desheng, Yang Xifei, Liu Jianjun
Key Laboratory of Modern Toxicology of Shenzhen, Medical Key Laboratory of Guangdong Province, Medical Key Laboratory of Health Toxicology of Shenzhen, Shenzhen Center for Disease Control and Prevention No.8, Longyuan Road, Nanshan District, Shenzhen 518055, China.
Shenzhen Entry-Exit Inspection and Quarantine Bureau Shenzhen, China.
Int J Clin Exp Med. 2014 Oct 15;7(10):3612-20. eCollection 2014.
China is a multinational country. The relationship between gene polymorphisms of xenobiotic metabolizing enzymes and national ethnicity has not previously investigated among Chinese people. The aim of this study was to investigate distributions of CYP1A1 and CYP2E1 gene polymorphisms in five ethnic groups of China.
829 blood samples were collected from five ethnic groups (Han, Shui, Miao, Zhuang, Bouyei). Taqman-MGB probe was used in Real-time PCR to test the gene polymorphisms of CYP1A1 (rs1048943 and rs4646903) and CYP2E1 (rs2031920 and rs6413420). We further validate the SNP genotyping results through DNA sequencing.
The genotype distribution of all four SNPs was in accordance with Hardy-Weinberg equilibrium except the genotype distribution of rs4646903 in Han and Bouyei ethnic groups (p=0.013 and 0.0005, respectively). CYP2E1 gene rs6413420 polymorphism was first found in the Bouyei ethnic group in China. The results of DNA sequencing were entirely in line with the SNP genotyping assay.
The CYP1A1 and CYP2E1 genetic polymorphisms were different in different ethnic groups in China. CYP2E1 gene rs6413420 polymorphism was first found in the Bouyei ethnic group of China.
中国是一个多民族国家。此前尚未在中国人群中研究过外源性物质代谢酶基因多态性与民族之间的关系。本研究的目的是调查中国五个民族中CYP1A1和CYP2E1基因多态性的分布情况。
从五个民族（汉族、水族、苗族、壮族、布依族）采集了829份血液样本。采用Taqman-MGB探针通过实时荧光定量PCR检测CYP1A1（rs1048943和rs4646903）和CYP2E1（rs2031920和rs6413420）的基因多态性。我们通过DNA测序进一步验证SNP基因分型结果。
除汉族和布依族中rs4646903的基因型分布外（分别为p = 0.013和0.0005），所有四个SNP的基因型分布均符合哈迪-温伯格平衡。CYP2E1基因rs6413420多态性首次在中国布依族人群中发现。DNA测序结果与SNP基因分型检测完全一致。
中国不同民族的CYP1A1和CYP2E1基因多态性存在差异。CYP2E1基因rs641342多态性首次在中国布依族人群中发现。
