贵州地区汉族阿尔茨海默症患者CYP2C19 基因多态性及代谢表型分析

目的　探讨贵州地区汉族阿尔茨海默症患者细胞色素P450 2C19(CYP2C19) 基因多态性及代谢表型的分布，为临 床个体化用药提供理论依据。方法　以DNA 微阵列技术检测227 例贵州地区汉族阿尔茨海默症患者CYP2C19 基因多态 性及代谢表型（快代谢型, 中等代谢型, 慢代谢型），用基因计数法计算基因频率和等位基因频率，同时分析基因多态 性与年龄、性别的相关性。结果　在227 例贵州地区汉族阿尔茨海默症患者中，CYP2C19*1/*1,*1/*2,*1/*3,*2/*2,*2/*3 基因型的频率分别为44.9%，38.3%，4.8%，8.8% 和3.1%，快代谢、中代谢和慢代谢3 种代谢表型所占比例分别为 44.9%，43.2% 和11.9%。不同性别及年龄基因型分布比较差异无统计学意义（χ2=4.314，4.435，均P>0.05），不同年 龄段CYP2C19 代谢表型分布差异有统计学意义（χ2=32.053，P<0.001）。结论　贵州地区汉族阿尔茨海默症患者中有 较多的CYP2C19 代谢功能缺失基因，检测CYP2C19 基因多态性及代谢表型能为临床个体化用药提供依据，提高临床 疗效，减少不良反应发生。

Analysis of CYP2C19 Gene Polymorphism and Metabolic Phenotype in Alzheimerdisease Patients of Han Nationality in Guizhou

Objective　To explore the distribution of cytochrome P450 2C19 (CYP2C19) gene polymorphisms and metabolic phenotypes in Alzheimer disease patients of Han nationality in Guizhou, and provide a theoretical basis for clinical individualized medication. Methods　DNA microarray technology was used to detect CYP2C19 gene polymorphism and metabolic phenotype (fast metabolic type, medium metabolic type, slow metabolic type) in 227 Alzheimer disease patients of Han nationality in Guizhou Area. Gene frequency and allele frequency were calculated by gene counting method, and the correlation between gene polymorphism and age and sex was analyzed. Results　Among 227 Alzheimer diseasepatients of Han nationality in Guizhou,the frequency of CYP2C19*1/*1,*1/*2,*1/*3,*2/*2,*2/*3 genotypes were 44.9%, 38.3%, 4.8%, 8.8% and 3.1% respectively, and the proportions of fast metabolism, medium metabolism and slow metabolism were 44.9%, 43.2% and 11.9%, respectively. There was no statistically significant difference in the distribution of genotypes between different genders and ages (χ2=4.314, 4.435, all P>0.05), and there was a statistically significant difference in the distribution of CYP2C19 metabolic phenotypes between different ages (χ2=32.053, P<0.001). Conclusion　There were more CYP2C19 metabolic function-deficient genes in Alzheimerdisease patients of Han nationality in Guizhou. Detection of CYP2C19 gene polymorphism and metabolic phenotype can provide a basis for clinical individualized medication, improve clinical efficacy, and reduce the occurrence of adverse reactions.