武汉地区314 例消化系统疾病患者CYP2C19 基因多态性分析

目的 分析武汉地区消化系统疾病患者CYP2C19 基因的多态性。方法 选取2016 年1 月—2017 年12 月于湖北省武汉市第三医院行CYP2C19 基因多态性检测的无血缘关系汉族消化系统疾病患者314例。采用实时荧光定量聚合酶链反应检测质子泵抑制剂代谢相关酶CYP2C19 基因型，根据基因型判断代谢表型，并分析性别、年龄及消化系统疾病临床分型与CYP2C19 基因多态性的相关性。结果 该研究共检测到8种基因型：CYP2C19 *1*17、*1*1、*1*2、*1*3、*2*17、*3*17、*2*2 及*2*3 ；4 种代谢表型：超快代谢型为0.96%，快代谢型型为36.94%，中间代谢型型为45.54%，慢代谢型型为16.56%。不同年龄、性别及消化系统疾病临床分型患者CYP2C19 基因型比较，差异无统计学意义（P >0.05）；不同性别、消化系统疾病临床分型患者代谢表型比较，差异无统计学意义（P >0.05）；不同年龄患者代谢表型比较，差异有统计学意义（P <0.05）。结论 武汉地区消化系统疾病患者CYP2C19 基因具有多态性，其等位基因频率和代谢表型分布情况与亚洲人群接近，与欧洲等其他国家人群存在明显差异。

Analysis of CYP2C19 gene polymorphisms in patients withdigestive system diseases in Wuhan

Objective To analyze polymorphisms of CYP2C19 gene in patients with digestive systemdiseases in Wuhan. Methods The 314 unrelated Han patients with digestive system diseases were chosen andtested for polymorphisms of CYP2C19 gene in our hospital from January 2016 to December 2017. Real-timefluorescence quantitative PCR was used to detect the genotypes of CYP2C19 which were related to the metabolismof proton pump inhibitors, and the metabolic phenotypes were judged according to the genotypes. The correlationsof genetic polymorphisms of CYP2C19 with sex, age, clinical classification of digestive system diseases wereanalyzed. Results A total of 8 genotypes (CYP2C19 *1*17, *1*1, *1*2, *1*3, *2*17, *3*17, *2*2 and *2*3) and4 metabolic phenotypes [UM (0.96%), EM (36.94%), IM (45.54%) and PM (16.56%)] were detected. The CYP2C19genotypes in the patients with different sex, age or clinical types of digestive system diseases had no statisticaldifferences (P > 0.05); the CYP2C19 metabolic phenotypes of the patients with different sex or clinical types ofdigestive system diseases had no statistical differences (P > 0.05), while there were statistical differences in metabolicphenotypes of CYP2C19 among the patients with different age (P < 0.05). Conclusions The CYP2C19 gene inpatients with digestive system diseases in Wuhan has polymorphisms, the distribution of allele frequency and themetabolic phenotype of CYP2C19 gene is similar to that in Asians, but obviously different from that of people inother countries such as Europeans.