Objective We conducted a case-control study to verify the association of rs2070045 SOLR1 polymorphism with PD in the northern Han Chinese population from mainland China.Methods A total of 215 unrelated Han Chinese healthy people and 377 PD patients were included in the study.According to the onset age,the PD patients were divided into 2 groups:early onset PD group (onset age ≤ 50 years old) and late onset PD group (＞50 years old).Clinical data was collected and peripheral blood genomic DNA was extracted using MALDI-TOF-PEX technology.The correlation of rs2070045 SOLR1 with Parkinson's disease was analyzed.Results Genotypic frequencies of rs2070045 SNP were investigated through the data from a total of 592 subjects including 377 PD patients and 215 control participants.Genotypes of TT,TG and GG were found in 52,182 and 143 PD patients respectively and in 31,13 and 71 Healthy controls.No significant differences were found in the genotype and allele frequency for rs2070045 between PD group and healthy control (HC) groups.The genotype for rs2070045 in the early-onset PD group was significantly different from that in the HC group (P=0.036).There were no significant differences in genotype and allele frequency between late-onset PD and HC groups.Moreover,carriers of the G-allele (genotype GG/ TG) of rs2070045 showed a significantly decreased risk of early-onset PD compared to non-carriers according to the Logistic regression analysis.Onset age of carriers (genotype GG/ TG) in late-onset PD group was lower compared to non-carries (P=0.001).Other clinical features such as gender,Hoehn-Yahr stage and disease duration had no statistical difference between carriers and non-carriers of PD patients.Conclusion We have found that rs2070045 SNP of SORL1 was associated with early-onset Parkinson's disease in the northern Han Chinese population.G-allele of rs2070045 SNP decrease the risk for early-onset PD,suggesting G-allele might be a protecting factor of early-onset PD.The influence of SORL1 gene polymorphism on Parkinson's disease warrants further investigation.%目的 探究SORL1基因rs2070045位点的单核苷酸多态性与帕金森病(Parkinson disease,PD)的相关性.方法 本研究纳入215名中国东北地区汉族健康人和377例PD患者.根据其发病年龄,将PD组患者再分为早发PD组(发病年龄≤50岁)和晚发PD组(发病年龄＞50岁),收集一般临床资料,提取外周血基因组DNA,利用MALDI-TOF-PEX技术检测SORL1基因rs2070045多态性分布情况,分析其与帕金森病的相关性.结果 在PD组与对照组以及晚发PD组与对照组的比较中,SORL1基因rs2070045位点单核苷酸多态性的基因型及等位基因频率分布无统计学差异.早发PD组与对照组比较,rs2070045基因型分布有显著差异(P=0.036),而等位基因频率无显著差异.在晚发PD中G等位基因携带者的起病年龄明显低于非携带者(P=0.001),其他临床特征如性别、Hoehn-Yahr分期以及病程在携带者和非携带者间无统计学差异.结论 SORL1基因rs2070045位点的单核苷酸多态性与中国东北地区汉族早发帕金森病相关,G等位基因可能是早发PD的保护性因素.
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