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目的了解中国汉族儿童细胞色素P450 2C19基因(CYP2C19)的基因代谢型分布,并考察性别、年龄对其遗传多态性的影响。方法收集2016年4-5月首都医科大学附属北京儿童医院保健中心健康体检的汉族儿童的全血标本,进行CYP2C19基因型检测,根据结果分为:纯合子快代谢型(homozygous extensive metabolizer,Hom EM),杂合子快代谢型/中间代谢型(heterozygous extensive metabolizer,Het EM),弱代谢型(poor metabolizer,PM),并分别统计各型儿童在性别、年龄等方面的差异性。结果本研究对182例中国汉族儿童CYP2C19基因代谢类型进行分析检测,Hom EM占35.7%,Het EM占47.8%,PM占16.5%。男103例,CYP2C19基因代谢类型Hom EM占32.0%,Het EM占51.5%,PM占16.5%;女79例,Hom EM占40.5%,Het EM占43.0%,PM占16.5%。年龄1岁~15岁1个月,中位数5岁,<3岁组,Hom EM占31.0%,Het EM占55.2%,PM占13.8%;3~6岁组Hom EM占38.3%,Het EM占42.0%,PM占19.7%;>6岁组Hom EM占34.7%,Het EM占51.4%,PM占13.9%。结论中国汉族儿童CYP2C19基因代谢类型以Hom EM(35.7%)及Het EM(47.8%)多见,而PM(16.5%)较少见。儿童CYP2C19基因代谢型在不同性别、年龄的发生率差异无统计学意义,初步判断,性别、年龄可能不是CYP2C19遗传多态性的主要影响因素。
Objective To investigate the gene distribution of cytochrome P450 2C19 gene (CYP2C19) in Chinese Han children and investigate the influence of sex and age on the genetic polymorphism. Methods Whole blood samples of healthy Han children from April to May 2016 at Beijing Children’s Hospital Health Center of Capital Medical University were collected for CYP2C19 genotype detection. According to the results, they were divided into Homozygous fast metabolizer (Hom EM) ), Heterozygous extensive metabolizer (Het EM) and poor metabolizer (PM). The differences in sex, age and other aspects of each type of children were also statistically analyzed. Results In this study, the genotypes of CYP2C19 in 182 Han Chinese children were analyzed and analyzed. Hom EM accounted for 35.7%, Het EM accounted for 47.8% and PM accounted for 16.5%. Hom EM accounted for 32.0%, Het EM accounted for 51.5%, PM accounted for 16.5%, female 79, Hom EM 40.5%, Het EM 43.0% and PM 16.5%. Hom EM accounted for 31.0%, Het EM accounted for 55.2%, PM accounted for 13.8%; Hom EM accounted for 38.3% in 3 to 6 years old group, Het EM EM accounted for 42.0% and PM accounted for 19.7%; Hom EM accounted for 34.7% for> 6-year-old group, Het EM accounted for 51.4% and PM accounted for 13.9%. Conclusion The genotypes of CYP2C19 gene in Chinese Han children are more common than Hom EM (35.7%) and Het EM (47.8%), while PM (16.5%) is rare. CYP2C19 genotypes in children with different genders, the incidence of age was no significant difference, preliminary judgment, gender, age may not be the main factor CYP2C19 genetic polymorphism.