论文部分内容阅读
目的探索基因-环境因素交互作用对新疆地区帕金森病(PD)发病风险的影响。方法以新疆地区221例PD患者、229例自然对照者为研究对象,采用PCR-RFLP法检测儿茶酚胺氧位甲基转移酶(COMT)基因G1947A多态性、单胺氧化酶B(MAOB)基因内含子13G/A多态性、多巴胺β-羟化酶(DBH)基因5 TaqⅠ位点多态性基因分型,并收集其环境因素(吸烟史、饮酒史、重大精神创伤史、饮用井水史、农药接触史、化肥接触史)的暴露情况,在遗传平衡(H-WE)的基础上,采用多因子将维法(MDR)分析基因-环境交互效应。结果 1在总样本,最佳交互模型为COMT-G1947A多态性、重大精神创伤史、饮用井水史、化肥接触史联合作用模式,该模型的检验平衡准确度最大(65.58%)、交叉验证一致性结果为10/10(P=0.001 0)。2按性别、民族、年龄进行分层分析,可见:a.在汉族群体中,最佳交互模型为重大精神创伤史、饮用井水史、化肥接触史联合作用模式,该模型的检验平衡准确度最大(76.68%)、交叉验证一致性结果为10/10(P=0.001 0);b.在年龄<60岁群体中,最佳交互模型为COMT-G1947A多态性、化肥接触史联合作用模式,该模型的检验平衡准确度最大(69.00%)、交叉验证一致性结果为10/10(P=0.010 7)。结论研究发现基因-环境交互作用可能存在,是新疆地区PD的发病风险。
Objective To explore the effect of gene-environment interaction on the risk of Parkinson’s disease (PD) in Xinjiang. Methods Totally 221 PD patients and 229 natural controls in Xinjiang were enrolled in this study. PCR-RFLP was used to detect the G1947A polymorphism of COMT gene and 13G of monoamine oxidase B (MAOB) gene / A polymorphism and polymorphism of 5 TaqI polymorphism of dopamine β-hydroxylase (DBH) gene and its environmental factors (smoking history, drinking history, major trauma history, history of drinking well water, pesticide Exposure history, history of exposure to chemical fertilizers). Based on the genetic equilibrium (H-WE), multiple factors were used to analyze the gene-environment interaction effect by MDR. Results 1 In the total sample, the best interaction model was COMT-G1947A polymorphism, major trauma history, history of drinking well water and history of chemical exposure history. The model had the highest balance of test accuracy (65.58%), cross-validation Consensus results were 10/10 (P = 0.001 0). In stratified analysis by gender, ethnicity and age, we can see: a. In the Han nationality group, the best interactive model is the history of major trauma, the history of drinking well water, the history of chemical fertilizer exposure, the test equilibrium accuracy (76.68%), and the cross validation consistency was 10/10 (P = 0.001 0). B. In the age group of 60 years, the best interaction model was COMT-G1947A polymorphism and the combined effect history of chemical fertilizer exposure The model has the highest test balance accuracy (69.00%) and the cross-validation consistency is 10/10 (P = 0.0107). Conclusion The study found that gene-environment interaction may exist, is the risk of PD in Xinjiang.