中国藏族人群中药物代谢酶CYP2C9的基因多态性分析
Genetic polymorphism analysis of the drug-metabolizing enzyme CYP2C9 in a Chinese Tibetan population.
作者信息
Jin Tianbo, Geng Tingting, He Na, Shi Xugang, Wang Li, Yuan Dongya, Kang Longli
机构信息
Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; School of Life Sciences, Northwest University, Xi'an, Shaanxi 710069, China.
Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, Shaanxi 710061, China.
出版信息
Gene. 2015 Aug 10;567(2):196-200. doi: 10.1016/j.gene.2015.04.084. Epub 2015 May 6.
OBJECTIVES
The enzymatic activity of CYP2C9 results in broad inter-individual variability in response to certain pharmacotherapies. The present study aimed to screen Tibetan volunteers for CYP2C9 genetic polymorphisms. Previous research has focused on Han Chinese patients, while little is known about the genetic variation of CYP2C9 in Tibetan populations.
METHODS
We used DNA sequencing to investigate the promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene in 96 unrelated healthy Tibetan individuals.
RESULTS
We identified 26 different CYP2C9 polymorphisms in the Tibetan population, including two novel variants detected in exon 9 (50193G>A and 50197G>C). In addition, we determined the allele frequencies of CYP2C9*1 and 3 were 93.75% and 5.73%, respectively. The rare CYP2C955 allele was also found in 0.52% of the study population.
CONCLUSIONS
Our results provide information on CYP2C9 polymorphisms in Tibetan individuals, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.
目的
细胞色素P450 2C9（CYP2C9）的酶活性导致个体对某些药物治疗的反应存在广泛差异。本研究旨在筛查藏族志愿者的CYP2C9基因多态性。以往研究主要集中在汉族患者，而对藏族人群中CYP2C9基因变异了解甚少。
方法
我们采用DNA测序技术，对96名无血缘关系的健康藏族个体的CYP2C9基因启动子、外显子及其周围内含子和3'非翻译区进行研究。
结果
我们在藏族人群中鉴定出26种不同的CYP2C9多态性，包括在外显子9中检测到的两个新变异（50193G>A和50197G>C）。此外，我们确定CYP2C91和3的等位基因频率分别为93.75%和5.73%。在0.52%的研究人群中还发现了罕见的CYP2C9*55等位基因。
结论
我们的研究结果提供了藏族个体CYP2C9基因多态性的信息，这可能有助于通过为该民族提供个性化医疗来优化药物治疗效果。
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