摘要目的 了解NURR1基因多态性与四川地区散发性帕金森病之间的相关性.方法 采用病例-对照研究,应用聚合酶链反应、等位基因特异性、限制性片段长度多态性对四川地区汉族人群241例帕金森病患者和236名正常对照NURR1基冈启动子区的c.-2922(C)2-3及第6内含子的ⅣS6+18imG多态位点进行关联分析.结果 IVS6+18insG位点帕金森病组3G/3G,3G/2G,2G/2G基因型频率与对照组相比差异无统计学意义(X2=3.733,P=0.155).进一步按发病年龄分层后发现,50岁以前发病的帕金森病患者基因型频率与对照组之间差异有统计学意义(X2=6.545,P=0.038).发病年龄＜50岁的帕金森病组患者3G/2G基因型频率显著高于对照组(54.12%vs 38.14%),并且与其他两组基因型合并相比差异有统计学意义(X2=6.537,P=0.011;OR=1.913,95%CI:1.159～3.158).c.-2922(C)2-3位点帕金森病组与对照组相比3C/3C,3C/2C及2C/2C基因型频率差异无统计学意义(P=0.766).结论 本研究结果提示NURR1基因ⅣS6+18insG多态可能与本组人群早发性帕金森病的遗传易感性相关;未发现c.-2922(C)2-3位点多态性与本组人群帕金森病的遗传易感性相关.

abstractsObjective To investigate the association between the polymorphisms of [c.-2922(C)2-3 and IVS6 + 18insG] in theNURR1 gene and Parkinson' s disease (PD) in a Han population from Sichuan province.Methods PCR,allele-specific PCR (AS-PCR) and restriction fragment length polymorphism (RFLP) were used to determine the genotype of each subject.Results The two polymorphic sites in 241 PD patients and 236 controls with matched age,gender and ethnicity were analyzed.In the IVS6 + 18insG site,the difference of genotype frequencies of 3G/3G,3G/2G and 2G/2G was not statistically significant.However,the 3G/2G genotype frequency was significantly higher in the PD with age of onset being ＜50 years than that in controls(X2=6.537,P=0.011;OR=1.913,95% CI:1.159-3.158).No significant differences were found in allele and genotype frequencies of the c.-2922(C)2-3 site in the promoter region between the PD and controls (P=0.766).Conclusion This study suggested that the IVS6 + 18insG polymorphism may be associated with genetic susceptibility of PD with age of onset being ＜ 50 years and the c.-2922(C)2-3 site in the promoter region may not be a risk factor for PD in our patient group.