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World J Gastroenterol. Apr 14, 2007; 13(14): 2100-2103
Published online Apr 14, 2007. doi: 10.3748/wjg.v13.i14.2100
Genetic variability of CYP2B6 polymorphisms in four southern Chinese populations
Bing-Ying Xu, Li-Ping Guo, Shui-Shan Lee, Qing-Ming Dong, Yi Tan, Hong Yao, Li-Hua Li, Che-Kit Lin, Hsiang-Fu Kung, Ming-Liang He
Bing-Ying Xu, Li-Ping Guo, Hong Yao, Li-Hua Li, Kunming Medical College, Kunming 650032, Yunnan Province, China
Qing-Ming Dong, Yi Tan, Hong Yao, Hsiang-Fu Kung, Ming-Liang He, Stanley Ho Center for Emerging Infectious Diseases, and Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong, China
Shui-Shan Lee, Department of Microbiology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China
Che-Kit Lin, Hong Kong Red Cross Blood Transfusion Service, Hong Kong, China
Author contributions: All authors contributed equally to the work.
Supported by The South China National Research Centre for Integrated Biosciences, and has been conducted collaboratively between Zhongshan University (ZU) and The Chinese University of Hong Kong
Correspondence to: Dr. Ming-Liang He, 2/F Postgraduate Education Centre, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong Kong, China. mlhe@cuhk.edu.hk
Telephone: +852-31634988 Fax: +852-29944988
Received: January 3, 2007
Revised: March 13, 2007
Accepted: March 20, 2007
Published online: April 14, 2007
Abstract

AIM: To investigate the genotype and allelic frequencies of Cytochrome P450 2B6 polymorphisms in four southern Chinese populations.

METHODS: DNA was obtained from blood samples from Han Chinese from Hong Kong and three minority groups, the Wa, Bulang and Lahu from Yunnan in southern China. Genotyping was performed using real-time PCR and confirmed by direct sequencing.

RESULTS: A total of 507 subjects from southern China were studied. Results showed there is a high prevalence of 516G > T (34.5%) in ethnic Chinese compared to literature reports on other Asian populations and Caucasians. The frequency of the 516TT genotype is higher in the Han majority (23.1%) than in three other ethnic minority groups (i.e., 7.4%, 9.1% and 15.8%) in southern China.

CONCLUSION: This was the first study to document the spectrum of CYP2B6 allelic variants and genotypes in a southern Chinese population. The 516G > T allele is associated with a defective metabolism of efavirenz (EFV), which therefore may predispose to drug toxicity. Treatment regimens for human immunodeficiency virus (HIV) and heroin addiction may need to be optimized in different populations because of the marked variability of the key metabolizing enzyme.

Keywords: Polymorphism, Allele, Genotype, Ethnicity, Discrimination PCR