湖北地区心血管疾病患者CYP2C19基因多态性分布情况及临床意义

CYP2C19 polymorphism distribution and its clinical significance in patients with cardiovascular diseases in Hubei area

目的了解湖北地区心血管疾病患者细胞色素P4502C19(CYP2C19)基因多态性分布情况及其对临床的指导意义,为个体化治疗提供依据。方法选取2015年1月—2016年3月在武汉大学人民医院住院的心血管疾病患者900例,采用基因芯片法检测患者CYP2C19基因型,同时收集其临床资料,包括年龄、性别、体重及诊断等相关指标进行分析。结果 900例患者,其中男性594例(66%),女性306例(34%);共检出6种CYP2C19基因型,其中*1/*2(636 GG,681 GA)基因型患者最多,占42.3%;其余依次为*1/*1(636 GG,681 GG)基因型患者(36.6%)、*2/*2(636 GG,681 AA)基因型患者(13.0%)、*1/*3(636 GA,681 GG)基因型患者(5.1%)、*2/*3(636 GA,681 GA)基因型患者(2.8%)和*3/*3(636 AA,681 GG)基因型患者(0.2%)。表型中IM型最高,占47.4%;其次为EM型和PM型,分别占36.6%和16.0%。等位基因CYP2C19*1的频率最高,占60.3%,等位基因CYP2C19*2和CYP2C19*3的频率分别为35.6%和4.2%。结论湖北地区心血管疾病患者CYP2C19基因型以*1/*2(636 GG,681 GA)基因型为主,表型IM型最多,等位基因以CYP2C19*1最常见。

[Objective]To learn the CYP2 C19 genotype and its clinical significance in patients with cardiovascular diseases in Hubei area,and provide a basis for personalized medicine.[Methods] Totally 900 patients with cardiovascular disease in Renmin Hospital of Wuhan University from January 2015-march 2016 were recruited for genotype detection of CYP2 C19 by gene chips,and the data of age,gender,weight and clinical data were recorded for analysis.[Results] Of 900 cases,594（66%） cases were male,306（34%） were female,6 genotypes of CYP2 C19 were found,the most common genotype was ＊1/＊2（636 GG,681 GA）,accounted for 42.3%,followed by ＊1/＊1（636 GG,681 GG）（36.6%）,＊2/＊2（636 GG,681 AA）（13.0%）,＊1/＊3（636 GA,681 GG）（5.1%）,＊2/＊3（636 GA,681 GA）（2.8%）,＊3/＊3（636 AA,681 GG）（0.2%）.The most common phenotype was IM,accounted for 47.4%,followed by EM（36.6%） and PM（16.0%）.The most common allele was CYP2 C19＊1,accounted for 60.3%,followed by CYP2 C19＊2 CYP2 C19＊3,allele frequency was 35.6% and 4.2% respectively.[Conclusion] The most common genotype,phenotype and allele of CYP2 C19 in patients with cardiovascular diseases in Hubei are ＊1/＊2（636 GG,681 GA）,IM and CYP2 C19＊1.