α突触核蛋白基因多态性与帕金森病及其认知障碍的相关性研究

目的研究α突触核蛋白基因启动子区rs2736990、rs356219和rs1372525位点多态性的分析,旨在探讨α突触核蛋白多态位点与中国汉族人群帕金森病及其轻度认知功能障碍发生的关系。方法选择帕金森病患者189例(帕金森病组),同期选择健康体检者189例(对照组)。帕金森病组又根据轻度认知功能障碍诊断标准评估结果分为轻度认知功能障碍组97例和认知正常组92例。比较各组基因型和等位基因的分布。结果帕金森病组rs356219的等位基因"G"频率分布明显高于对照组,差异有统计学意义(60.1%vs 52.9%,P<0.05)。帕金森病组与对照组rs2736990和rs1372525位点的基因型及等位基因频率分布差异无统计学意义(P>0.05)。轻度认知功能障碍组与认知正常组rs2736990、rs35621 9和rs1372525位点基因型及等位基因频率分布差异无统计学意义(P>0.05)。结论α突触核蛋白基因的rs356219多态性与帕金森病的发病相关,等位基因"G"可能是帕金森病的易感因素。α突触核蛋白基因rs2736990、rs356219和rs1372525位点多态性可能与帕金森病的轻度认知功能障碍无关。

Relation of synuclein gene polymorphisms with Parkinson's disease and its cognitive impairment

Objective To study the relation of alpha-synuclein gene(rs2736990,rs356219 and rsl372525) polymorphisms with Parkinson's disease(PD) and its mild cognitive impairment (MCI).Methods One hundred and eighty-nine PD patients served as a PD group and 189 healthy volunteers served as a control group in this study.The PD group was further divided into MCI group(n = 97) and normal cognition group(n= 92) in accordance with neuropsychological battery socres.The genotype of the three SNP using polymerase chain reaction-restriction fragment length polymorphism combined with DNA sequencing were defined Prevalence of genotypes and alleles was compared between the two groups.Results The prevalence of "G" allele(rs356219) was significantly higher in PD group than in control group(60.1%vs 52.9%,P<0.05).However, no significant difference was found in the prevalence of genotypes and alleles between PD group and control groupCin rs2736990 and rsl372525 ) and(between MCI group and normal cognition groupCin rs2736990,rs356219 and rs1372525,P>0.05).Conclusion Alpha-synuclein gene Crs356219) polymorphisms is related with the occurrence of PD,"G" alleles may be a susceptible factor for PD.However,alpha-synuclein gene C rs2736990,rs356219 and rsl372525) polymorphisms are lack of not related with MCI in PD.