Genetic polymorphisms analysis of drug-metabolizing enzyme CYP2C9 in the Uyghur population

Genetic variations in cytochrome P450 2C9 are known to contribute to interindividual and interethnic variability in response to clinical drugs, but little is known about the genetic variation of CYP2C9 in the Uyghur population. We directly sequenced the whole CYP2C9 gene in 96 unrelated, healthy Uyg...

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Bibliographic Details
Published in:Xenobiotica 2016-08, Vol.46 (8), p.709-714
Main Authors: Jin, Tianbo, Xun, Xiaojie, Du, Shuli, Geng, Tingting, Wang, Hong, Feng, Tian, Chen, Chen, Yuan, Dongya, Kang, Longli
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group
China
CYP2C9
Cytochrome P-450 CYP2C9 - genetics
Gene Frequency
genetic polymorphism
Genotype
Humans
Polymorphism, Genetic
Uyghur
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Summary:Genetic variations in cytochrome P450 2C9 are known to contribute to interindividual and interethnic variability in response to clinical drugs, but little is known about the genetic variation of CYP2C9 in the Uyghur population. We directly sequenced the whole CYP2C9 gene in 96 unrelated, healthy Uyghur from Xinjiang Uygur Autonomous Region of China and screened for genetic variants in the promoter, exons, introns and 3′-UTR. Thirty five previously reported alleles and six genotypes were detected in this study. The allele frequencies of CYP2C9*1, *2, *11, *12, *29 and *33 were 89.58, 7.81, 0.52, 0.52, 1.04 and 0.52%, respectively. We detected one non-synonymous novel variant at position 329 from Arg to Cys and this mutation is predicted to be intolerant by SIFT. Our results provide basic information about CYP2C9 alleles in Uyghur, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.
ISSN:0049-8254
1366-5928
DOI:10.3109/00498254.2015.1115914