目的：探讨LRRK2基因G2385R基因型与中国沿海地区汉族人群PD相关性，分析 G2385R基因型在 PD发病中作用。方法收集 PD患者257例和健康对照259例临床资料与基因组DNA。采用PCR－RFLP技术检测PD患者G2385R基因型；测定变异携带者及非携带者DNA序列。分析G2385R基因型在病例组和对照组中分布频率及其与性别、年龄相互作用，统计G2385R变异人群归因危险度百分比。结果 PD组25例患者GA基因型（9．7％）高于对照组6例GA基因型（2．0％）（χ2＝15．57，P＜0．0001，OR＝5．24，95％ CI＝2．11～12．99）。人群归因危险度百分比7．86％。未发现AA基因型。晚发型PD患者GA基因型为10．0％，与对应年龄对照组 GA基因型2．2％有统计学差异（χ2＝11．88，P ＝0．002，OR＝4．97，95％ CI＝1．83～13．52）。携带 G2385R 患者同非携带患者临床表型在性别、发病年龄、临床症状、UPDRS 评分及 Hoehn－Yahr分级均无统计学差异。结论 G2385R变异在中国沿海地区汉族人群中仅与晚发性帕金森病相关，G2385R变异与东亚人群帕金森病具有相关性，存在不同地区差异。%ABSTRACT:OBJECTIVE To explore G2385 R genetype and PD of Han Chinese in littoral of Zhejiang province , then analyzed all the studies on relationship between the G 2385 R genetype and PD.METHODS The clinical data and extracted DNA from peripheral blood of 259 cases of PD patients and 257 healthy controls were collect-ed.Polymerase Chain Reaction combined with restriction fragment length polymorphism ( PCR-RFLP) was used to de-tected the G2385 R genetype of PD patients ,for the G2385 R genetype of line carders and non-carriers was verified by the sequencing.The distribution of genotype frequencies in 259 casesof PD patients and 257 healthy controls were compared ,then the population attributable risk percent ( PAR%) of G2385 R variations was count and the synergy with gender and age interaction was analyzed at the same time .RESULTS In the detection of G2385R,25 PD pa-tients were GA genotype ( 9.7%) , significantly higher than that of the six cases of GA genotype ( 2.0%) (χ2 =15.57 ,P<0.0001 ,OR=5.243 ,95%CI:2.115~12.996 ) .The PAR was 7.86%.No PD patient with AA genotyp was found.The patients with late-onset PD patients ,20 cases of GA genotype (10.0%) ,corresponding to the age of the control group,5 cases of GA genotype (2.2%),both statistically significant difference (χ2 =11.886,P=0.002, OR=4.978,95%CI:1.832-13.523).The aspects of clinical phenotype (such as sex,age,clinical symptoms,UP-DRS score and Hoehn-Yahr grade)of patients carrying G2385R was not statistically different.CONCLUSION The G2385 R variant in the LRRK2 gene may be a risk factor of the late-onset Parkinson′s disease in littoral of Zhejiang province.The G2385R may result in more incidence of Parkinson′S disease in East Asia.However,there is difference in different regions.
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