Systematic polymorphism analysis of the CYP2C9 gene in Chinese Han and Tibetan populations |
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Authors: | Yue-Wen Wang Xiao-Hong Meng Wei Yan Xiao-Qing Zhang Jin Yang |
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Affiliation: | 1. National Engineering Research Center for Miniaturized Detection System, College of Life Sciences, Northwest University, Xi??an, Shaanxi, 710069, China 2. 504 Section of Xi?? an High-tech Institute, Xi??an, Shaanxi, 710025, China
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Abstract: | Study about polymorphism of the CYP2C9 was not reported in the Chinese Tibetan population and there was no comparison of genetic polymorphism pattern of CYP2C9 between Chinese Han and Tibetan populations. Here we screened the genetic polymorphisms of functional regions of the CYP2C9 in 100 unrelated healthy Chinese Han and Tibetan volunteers, respectively, using direct sequencing. A total of 20 variants were detected and there were different distribution of allelic and genotype frequencies, linkage disequilibrium patterns, haplotype structures and htSNPs between the two populations. CYP2C9*3 is a major functional variant of CYP2C9 in the two populations and *11 allele was only detected in Tibetan population. The determined genetic information of CYP2C9 in Chinese Han and Tibetan populations might serve as a baseline for larger studies on determining metabolic phenotypes of CYP2C9 substrate drugs and also provide important data for the advance of personalized medicine in Chinese Han and Tibetan populations. |
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