SNCA、P450基因多态性和环境因素交互作用与新疆地区帕金森病的关联研究

Correlation between Xinjiang region Parkinson disease and the interaction between polymorphisms of alpha-synuclein,cytochrome P4501A1 and environmental factors

目的探索基因-环境因素交互作用对新疆地区帕金森病(Parkinson disease,PD)发病风险的影响。方法以新疆地区224例PD患者、241例自然对照者为研究对象,采用PCR-RFLP法检测SNCA-rs3822086、P4501A1-Msp I的基因分型,并收集其环境因素(吸烟史、饮酒史、喝茶史、农药接触史、化肥接触史、饮用井水史、重大精神创伤史)的暴露情况,在遗传平衡(Hardy-Weinberg equilibrium,HWE)的基础上,采用多因子将维法(multifactor dimensionality reduction,MDR)法分析基因-环境间的交互效应。结果 (1)在男性群体中,最佳交互模型为吸烟史、重大精神创伤史、化肥接触史联合作用模式,该模型的检验平衡准确度最大(77.91%)、交叉验证一致性结果为10/10。(2)在年龄≥60岁的群体中,最佳交互模型为P450 1A1 Msp I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(76.12%)、交叉验证一致性结果为10/10。结论在我们的研究中,发现基因-环境间可能存在交互作用影响新疆地区PD的发病风险。

Objective To explore the correlation beween Xinjiang region Parkinson disease（PD） and the interaction in polymorphisms of alpha-synuclein（SNCA） and eytochrome P4501A1 （P450 1A1 ）with the environmental factors. Meth- ods The polymorphisms of SNCA gene rs3822086 site and CYP 1Algene Msp I was determined by polymerase chain-reac- tion restriction fragment length polymorphism（PCR-RFLP） in 224 PD patients and 241 health controls in Xinjiang, collected the environmental factors of history exposure to smoking, drinking tea, drinking, fertilizer contact, pesticides, well-water con- sumption and negative life events. After Hardy-Weinberg equilibrium（HWE） tests,the gene-environment interactions mod- els were built by the muhifactor dimensionality reduction（MDR） software. Results ① In male group, the interaction be- tween the history of exposure to smoking, negative life events and fertilizer contact gave the best MDR model with signifi- cance. The model Testing Balance Accuracy was 77.91% ,The Cross-Validation Consistency was 10/10. ② In the age ≥ 60years old group, the interaction between the history of exposure to negative life events, well-water consumption, fertilizer contact and polymorphisms of CYP 1Algene Msp I gave the best MDR model with significance. The model Testing Balance Accuracy was 76.12%, the Cross-Validation Consistency was 10/10. Conclusion In our study, we find that the synergistic function of gene-environment might increase the risk of PD of some population in Xinjiang region.