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

Abstract

1. 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.

2. 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.

3. 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.

4. 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.

• CYP2C9
• genetic polymorphism
• genotype
• Uyghur

Declaration of interest

We declare that we have no financial and personal relationships with other people or organizations that can inappropriately influence our work; there is no professional or other personal interest of any nature or kind in any product, service and/or company that could be construed as influencing the position presented in, or the review of, the manuscript entitled. This work is supported by the Key Program of Natural Science Foundation of Xizang (Tibet) Autonomous Region (20152R-13-11), Major Training Program of Tibet University for Nationalities (No. 13myZP06), Major Science and Technology Research projects of Xizang (Tibet) Autonomous Region (2015) and The National Natural Science Foundations (No. 81560516)