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 CYP2C9*55 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.
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