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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HoehnYahr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。
Objective To investigate the association between the G2385R genotype of LRRK2 gene and PD in Chinese Han population in the coastal areas of China and analyze the role of G2385R genotype in the pathogenesis of PD. Methods The clinical data and genomic DNA of 257 PD patients and 259 healthy controls were collected. The genotypes of G2385R in PD patients were detected by PCR-RFLP. The DNA sequences of carriers and non-carriers were determined. The distribution frequency of G2385R genotype in the case group and control group and its interaction with gender and age were analyzed. The percentage of attribution risk of G2385R mutation population was calculated. Results GA genotype (9.7%) of 25 patients in PD group was higher than 6 cases of GA genotype (2.0%) in control group (χ2 = 15.57, P <0.0001, OR = 5.24, 95% CI = 2.11-12.99). The percentage of at-risk in the population was 7.86%. AA genotype was not found. The GA genotype of late-onset PD patients was 10.0%, which was significantly different from the 2.2% GA genotype of corresponding age controls (χ2 = 11.88, P = 0.002, OR = 4.97, 95% CI = 1.83-1.552). There was no significant difference in gender, age of onset, clinical symptoms, UPDRS score and Hoehn Yahr grade between patients with G2385R and non-carriers. Conclusion G2385R mutation is only associated with late-onset Parkinson’s disease in Chinese Han population in China’s coastal areas. The G2385R mutation is associated with Parkinson’s disease in East Asian population, with different regional differences.