CYP19基因多态性与阿尔茨海默病遗传易感性的相关性研究

Relationship between CYP19 gene polymorphism and Alzheimer＇s disease

目的探讨CYP19基因的多态性与阿尔茨海默病（AD）的关系。方法利用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）技术分析了102例AD患者与121名正常健康成人CYP19基因胍I位点等位基因分布频率，比较基因型在AD患者与正常人之间的分布差异。结果（1）CYP19等位基因频率分布：AD组m1、m2分别为66．2％、33．8％，正常对照组分别为81．0％、19．0％，两组比较差异有统计学意义（x2=12．696，P〈0．05）。（2）CYP19基因MfeI位点基因型分布频率：AD组ml／ml、ml／m2、m2／m2分布与正常对照组比较差异有统计学意义（44．1％、44．1％、11．8％；65.3％、31.4％、3．3％；x2=12．384，P〈0．05）。结论CYP19基因多态性与AD的遗传易感性有相关性。

Objective To investigate the relationship between CYP19 gene polymorphism and Alzheimer disease. Methods Polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to analyze the allele frequency distribution at the Mfe I site of CYP19 gene in 102 patients with Alzheimer disease and 121 healthy control subjects. Results The frequencies of CYPI9 ml and m2 alleles showed significant differences between the patient group and the control group （66.2% vs 81.0% and 33.8% vs 19.0%, respectively, X2=12.696, P〈0.05）. In patients with Alzheimer disease, the frequencies ofml/ml, ml/m2, m2/m2 genotypes ofCYP19 gene were 44.1%, 44.1%, and 11.8%, respectively, showing significant differences from the frequencies in the control subjects （65.3%, 31.4%, and 3.3%, respectively, X2=12.384, P〈0.05）. Conclusion CYP19 gene polymorphism at the Mfe I site is associated with the genetic susceptibility to Alzheimer disease.