中国藏族人群细胞色素P4502E1（CYP2E1）的基因多态性分析
Genetic polymorphism analysis of cytochrome P4502E1 (CYP2E1) in a Chinese Tibetan population.
作者信息
Wang Li, Ren Guoxia, Li Jingjie, Zhu Linhao, Niu Fanglin, Yan Mengdan, Li Jing, Yuan Dongya, Jin Tianbo
机构信息
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi Department of Respiratory and Critical Care Medicine, The First Affiliated Hospital of School of Medicine of Xi'an Jiaotong University, Xi'an Department of Intergrated Traditional Chinese and Western Medicine, Xi'an Chest Hospital, Xi'an Key Laboratory of Resource Biology and Biotechnology in Western China (Northwest University), Ministry of Education, School of Life Sciences, Northwest University, Xi'an, Shaanxi, China.
出版信息
Medicine (Baltimore). 2017 Nov;96(47):e8855. doi: 10.1097/MD.0000000000008855.
Cytochrome P4502E1 (CYP2E1) gene genetic polymorphisms vary markedly in frequency among different ethnic and racial groups.We studied the genotype distributions and allele frequencies of 3 CYP2E1 polymorphisms: CYP2E11A, CYP2E17A, and CYP2E17C by polymerase chain reaction technique in a sample of 100 healthy subjects representing Tibetan population.The frequencies of CYP2E11A, 7A, and 7C alleles were 0.705, 0.125, and 0.170, respectively. Compared with other populations, we found that the allele frequencies of the variants -352A>G (rs2070672) and -333A>T (rs2070673) in this Tibetan population have significant differences compared with European-American, African-American, Japanese, Korean, and other different geographic areas in Chinese Han population. Furthermore, the results of protein prediction revealed that the variant 6397G>A (rs61710826) could influence the protein structure and function.These findings in this study would be valuable for pharmacogenetics for drug therapy and drug discovery. However, further studies in larger samples are warranted to confirm our results.
细胞色素P4502E1（CYP2E1）基因的遗传多态性在不同种族和民族群体中的频率差异显著。我们采用聚合酶链反应技术，对100名代表藏族人群的健康受试者样本进行研究，分析了CYP2E1的3种多态性：CYP2E11A、CYP2E17A和CYP2E17C的基因型分布及等位基因频率。CYP2E11A、7A和7C等位基因的频率分别为0.705、0.125和0.170。与其他人群相比，我们发现该藏族人群中-352A>G（rs2070672）和-333A>T（rs2070673）变异的等位基因频率与欧美、非裔美国人、日本、韩国以及中国汉族人群中其他不同地理区域的人群存在显著差异。此外，蛋白质预测结果显示，6397G>A（rs61710826）变异可能会影响蛋白质的结构和功能。本研究的这些发现对于药物治疗和药物研发的药物遗传学具有重要价值。然而，需要进一步开展更大样本量的研究来证实我们的结果。
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