中国汉族人群不同性别、年龄、体重指数之间细胞色素氧化酶CYP2C19 基因多态性的检测

中国临床药理学与治疗学 ›› 2007, Vol. 12 ›› Issue (2): 208-213.

中国汉族人群不同性别、年龄、体重指数之间细胞色素氧化酶CYP2C19 基因多态性的检测

周健, 吕虹, 康熙雄

首都医科大学附属北京天坛医院实验诊断中心, 北京 100050

收稿日期:2006-09-18 修回日期:2006-12-25 出版日期:2007-02-26 发布日期:2020-10-27
通讯作者: 康熙雄,男, 主任医师, 博士生导师, 研究方向:个体化治疗。Tel:010-67017658 E-mail:09092494 @sina.com
作者简介:周健, 女, 博士研究生, 研究方向:基因工程与个体化治疗。Tel:010-67096875 　E-mail:jianzh78 @hotmail.com

Genetic polymorphism analysis of cytochrome P450 2C19 among gender,age and body mass index in Chinese Han population

ZHOU Jian, LV Hong, KANG Xi-xiong

Tiantan Hospital Laboratory Diagnosis Center, Capital University of Medical Science, Beijing 100050, China

Received:2006-09-18 Revised:2006-12-25 Online:2007-02-26 Published:2020-10-27

摘要/Abstract

摘要： 目的: 研究细胞色素P450 2C19 基因(CYP2C19)在中国汉族人群中的基因型及等位基因突变频率, 并考察性别、年龄(18 ~ 80 岁)和体重指数对中国汉族人群CYP2C19 遗传多态性的影响。方法: 应用PCR 与DNA 测序技术相结合的方法对283 名(126 名男性, 157 名女性;年龄18 ~ 80 岁, 体重指数:17~31)中国汉族健康人进行CYP2C19 基因多态性分析。结果: 本研究中一共检测到CYP2C19的六个不同基因突变型, 野生型纯合子CYP2C19 *1 *1 占42.4 %(120 283), CYP2C19 *2 和CYP2C19*3 的等位基因频率分别为29.2 %和6.7 %, 14.2 %(40 283)为CYP2C19 的慢代谢基因型。126 名男性中,CYP2C19 *2 和*3 的等位基因频率为28.2 %和5.2 %;157 名女性中,CYP2C19 *2 和*3 的等位基因频率为29.9 %和8 %。18 ~ 45 岁年龄组,CYP2C19*2 和*3 的等位基因频率为28.1 %和6.6 %;大于等于45 岁年龄组,CYP2C19 *2 和*3 的等位基因频率为29.9 %和6.8 %。体重指数小于25,CYP2C19 *2 和*3 的等位基因频率为31.1 %和6.6 %;大于25,CYP2C19 *2 和*3 的等位基因频率为22.7 %和7.0 %。结论: 在中国汉族健康受试人群中,CYP2C19 *2 和*3 的基因型在不同性别、年龄和体重指数的发生频率没有显著统计学差异。可以初步推断, 性别、年龄和体重指数可能不是CYP2C19 遗传多态性的主要影响因素。

关键词: CYP2C19, 基因多态性, 等位基因

Abstract: AIM: To identify the distribution feature of cytochrome P450 2C19 (CYP2C19)gene, and assess the effects of gender, age (18-80 years old)and body weight on genetic polymorphism of CYP2C19 in a Chinese Han population.METHODS: Two hundred and eightthree unrelated, healthy Chinese Han population subjects (126 males and 157 females, aged from 18 to 80)were genotyped for CYP2C19 to identify the wild-type (CYP2C19 *1)gene and two mutations (CYP2C19 *2 CYP2C19 *3) by PCR and DNA sequencing.RESULTS: Six different allelic variants of CYP2C19 gene were observed in this study.42.4 %(120 of the 283 subjects) were homozygous for the wild type CYP2C19 *1 * 1 in total by the genotyping analysis.The frequencies of the CYP2C19 *2 and *3 alleles were 29.2 % and 6.7 % respectively.14.2 % (40 of 283 subjects)were genotypically identified as PMs of CYP2C19.Of 126 genotyped male subjects, the CYP2C19 *2 and *3 allele frequencies were 28.2 %and 5.2 %.And among the 157 female subjects, the frequencies of the two alleles were 29.9 % and 8.0 %.The frequencies of CYP2C19 *2 and CYP2C19 *3 alleles in different ages were 29.9 % and 6.8 % (18 to 45 years old)versus 28.1 % and 6.6 % (no less than 45 years old).Body mass index (BMI)is an optimal way to examine obesity rather than actual body weight.BMI>25 indicates the individual is overweight. The frequencies of the CYP2C19 *2 and *3 alleles were 31.1 % and 6.6 %in BMI <25 group versus 22.7 %and 7 % in BMI>25 group.CONCLUSION: There are no statistically significant difference in the occurrence of CYP2C19 *2 and CYP2C19 *3 among gender (P>0.05), age (P>0.05)and BMI (P>0.05).So gender, age and BMI may have no significant effect on genetic polymorphism of CYP2C19.

Key words: CYP2C19, gentic polymorphism, allele

中图分类号:

R968

周健, 吕虹, 康熙雄. 中国汉族人群不同性别、年龄、体重指数之间细胞色素氧化酶CYP2C19 基因多态性的检测[J]. 中国临床药理学与治疗学, 2007, 12(2): 208-213.

ZHOU Jian, LV Hong, KANG Xi-xiong. Genetic polymorphism analysis of cytochrome P450 2C19 among gender,age and body mass index in Chinese Han population[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2007, 12(2): 208-213.

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