目的探讨LRRK2基因G2385R突变与中国沿海地区汉族人群帕金森病（PD）相关性，分析LRRK2基因多态在PD发病中的作用。方法收集PD患者197例（PD组）、健康对照者202例（对照组）的临床资料与基因组DNA。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PD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[19例（9.64%）]患者GA基因型高于对照组[5例（2.48%）]（字2=9.07， P＜0.01，OR=5.04，95%CI=2.16～11.78）。人群归因危险度百分比7.82%。未发现AA基因型。晚发型PD患者GA基因型为9.80%，与对照组（2.23%）比较，差异有统计学意义（P＜0.01，OR=4.35，95%CI=1.76～12.93）。携带G2385R患者与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分级差异均无统计学意义（均P＞0.05）。结论 LRRK2基因G2385R变异在中国沿海地区汉族人群中与晚发性PD相关，存在不同地区差异。%Objective To investigate the association between G2385R polymorphisms of LRRK2 gene and Parkinson's disease (PD). Methods The clinical data and peripheral blood samples were col ected from 197 PD patients and 202 healthy subjects. Polymerase Chain Reaction combined with restriction fragment length polymorphism(PCR-RFLP) was used to detected the G2385R genotypes of PD patients, the G2385R genotype was verified by the sequencing. The sex, age, clinical symptoms, UPDRS score and Hoehn-Yahr grade were compared among PD patients with different genotypes. The frequencies of genotype distribution of PD patients and healthy subjects were compared. The population attributable risk percent(PAR%)of G2385R varia-tions was counted and the synergy with gender and age interaction was analyzed. Results The genotype GA of G2385R was detected in 19 cases of PD(9.64%), while that was detected in 5 controls(2.48%)(χ²=9.07, P<0.01, OR=5.04, 95%CI:2.16~11.78) and the PAR%of 7.82%was gained. No PD patient with AA genotype was found. The genotype GA was detected in 15 cases of late-onset PD(9.80%), in the age-matched controls, there were only 4 subjects of GA genotype(2.23%)(P<0.01, OR=4.35, 95%CI:1.76~12.93). There were no significant differences in clinical phenotypes (sex, age, clinical symptoms, UPDRS score and Hoehn-Yahr grade)between patients carrying G2385R and those not carrying. Conclusion The G2385R variant in LRRK2 gene may be a risk factor of the late-onset Parkinson's disease in Han Chinese patients.
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