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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. [ABSTRACT FROM PUBLISHER]

1. CYP2C19is a clinically important enzyme and is involved in the metabolism of approximately 10% of drugs used in daily clinical practice. Previous studies mainly focused on Chinese Han populations or other ethnic groups, little is known about Uyghur populations. 2. The present study was designed to determine the genetic basis ofCYP2C19polymorphisms. 3. We used direct sequencing to investigate the promoter, exons and surrounding introns, and 3′-untranslated region of theCYP2C19gene in 96 unrelated healthy Uyghur individuals. 4. A total of 31 differentCYP2C19polymorphisms were identified in the Uyghur population, three of which were novel, including two nonsynonymous variants (57807A > M, Gln279Pro and 19257G > R, Asp262Asn) and one synonymous variants in exon 5 (19184T > Y, Leu237Leu). In addition,CYP2C19*1, *2 and *3 alleles showed frequencies of 83.34%, 14.06% and 2.08%, respectively. 5. This is the first study that systematically screened the polymorphisms of the wholeCYP2C19gene in Uyghur population. Hence, our results provided important information onCYP2C19polymorphisms in Uyghur population and could be helpful for future personalized medicine studies in Uyghur population generally. [ABSTRACT FROM PUBLISHER]