Yipeng Ding1, Danlei Yang2, Long Zhou3, Ping He1, Jinjian Yao1, Pingdong Xie1, Daobo Lin1, Dingwei Sun1, Pei Sun1, Quanni Li1, Tingting Geng4, Tianbo Jin5. 1. Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China. 2. Department of Respiratory and Critical Care Medicine, Tongji Hospital, Key Laboratory of Pulmonary Diseases of Health MinistryWuhan 430030, China; Huazhong University of Science and Technology1095 Jiefang Dadao Road, Wuhan 430030, China. 3. School of Life Sciences, Northwest University Xi'an 710069, China. 4. National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, China. 5. School of Life Sciences, Northwest UniversityXi'an 710069, China; National Engineering Research Center for Miniaturized Detection SystemsXi'an 710069, China.
Abstract
BACKGROUND: The frequencies of Cytochrome P450 2C9 (CYP2C9) genotypes were various between populations. The aim of this study was to investigate the frequencies of the major variants of the CYP2C9 in Chinese Li minority populations. METHODS: The promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene was detected by DNA sequencing to investigate in 100 unrelated healthy Chinese Li subjects. The protein function prediction was used the online tools: Sorting Intolerant From Tolerant (SIFT) and Phenotyping Version 2 (PolyPhen-2). The comparison of CYP2C9 allele frequencies in different populations were analyzed by Chi-square (χ(2)) test. Linkage disequilibrium (LD) analysis was performed using Haploview software. RESULTS: We identified 17 different CYP2C9 single nucleotide polymorphisms (SNPs) in the Li population, including two missense mutations (3549 G > A and 42614 A > C) and two silent mutations (3514 T > Cand 50298A > T). The protein function prediction revealed the two missense mutations result in protein damaging. In addition, we detected the allele frequencies of CYP2C9*1, CYP2C9*3 and CYP2C9*42 were 98%, 1%, and 1%, respectively. Finally, we compared three major allelic frequency (CYP2C9*1, CYP2C9*2, and CYP2C9*3) between Li and other populations. We found that our results were similar to East Asians and Africans.
BACKGROUND: The frequencies of Cytochrome P450 2C9 (CYP2C9) genotypes were various between populations. The aim of this study was to investigate the frequencies of the major variants of the CYP2C9 in Chinese Li minority populations. METHODS: The promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene was detected by DNA sequencing to investigate in 100 unrelated healthy Chinese Li subjects. The protein function prediction was used the online tools: Sorting Intolerant From Tolerant (SIFT) and Phenotyping Version 2 (PolyPhen-2). The comparison of CYP2C9 allele frequencies in different populations were analyzed by Chi-square (χ(2)) test. Linkage disequilibrium (LD) analysis was performed using Haploview software. RESULTS: We identified 17 different CYP2C9 single nucleotide polymorphisms (SNPs) in the Li population, including two missense mutations (3549 G > A and 42614 A > C) and two silent mutations (3514 T > Cand 50298A > T). The protein function prediction revealed the two missense mutations result in protein damaging. In addition, we detected the allele frequencies of CYP2C9*1, CYP2C9*3 and CYP2C9*42 were 98%, 1%, and 1%, respectively. Finally, we compared three major allelic frequency (CYP2C9*1, CYP2C9*2, and CYP2C9*3) between Li and other populations. We found that our results were similar to East Asians and Africans.
Entities:
Keywords:
CYP2C9; CYP2C9*1; CYP2C9*3; CYP2C9*42; Chinese Li minority populations; allele frequencies
Authors: A Llerena; M Alvarez; P Dorado; I González; E Peñas-LLedó; B Pérez; J Cobaleda; L R Calzadilla Journal: Pharmacogenomics J Date: 2013-08-20 Impact factor: 3.550