Genetic polymorphism analysis of the drug-metabolizing enzyme CYP2C9 in a Chinese Tibetan population

Tianbo Jin; Tingting Geng; Na He; Xugang Shi; Li Wang; Dongya Yuan; Longli Kang

doi:10.1016/j.gene.2015.04.084

Genetic polymorphism analysis of the drug-metabolizing enzyme CYP2C9 in a Chinese Tibetan population

Gene. 2015 Aug 10;567(2):196-200. doi: 10.1016/j.gene.2015.04.084. Epub 2015 May 6.

Authors

Tianbo Jin¹, Tingting Geng², Na He³, Xugang Shi³, Li Wang³, Dongya Yuan³, Longli Kang⁴

Affiliations

¹ Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; School of Life Sciences, Northwest University, Xi'an, Shaanxi 710069, China.
² Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, Shaanxi 710061, China.
³ Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China.
⁴ Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China. Electronic address: klongli@163.com.

PMID: 25958051
DOI: 10.1016/j.gene.2015.04.084

Abstract

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.

Keywords: CYP2C9; Ethnic groups; Genetic polymorphism; Tibetan populations.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Cytochrome P-450 CYP2C9 / genetics*
Female
Gene Frequency
Genetic Association Studies
Humans
Linkage Disequilibrium
Male
Mutation, Missense
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA
Tibet

Substances

CYP2C9 protein, human
Cytochrome P-450 CYP2C9