α-突触核蛋白基因多态性与汉族帕金森病患者病情进展的相关性研究

Association between SNCA Gene Polymorphism and Parkinson's Disease in Han Population

目的探讨α-突触核蛋白基因rs11931074位点多态性与帕金森病患者病情进展的相关性。方法采用病例对照研究方法,选取2014年3月至2017年10月在南京脑科医院就诊的帕金森病患者154例(PD组)及健康体检志愿者194例(对照组)为研究对象,采用MassARRAY■SNP方法对SNCA基因rs11931074位点多态性进行分析,分别在患者基线及随访(3年)时间点进行UPDRS、HAMD、HAMA、PDNMSQ、PDSS、MMSE等相关量表评估,计算差值年限比(即基线及随访时差值/年限),分析基因rs11931074多态性与帕金森病病情进展的相关性。结果与对照组比较,PD组rs11931074T等位基因、TT基因型变异频率高干对照组(P=0.01);线性相关分析示rs11931074变异(GT+TT)携带者发病年龄越大,日常生活能力损害越严重(P=0.03);多因素线性回归分析示SNCA基因rs11931074位点与PD患者强直症状进展相关(P=0.036);SNCA基因rs11931074TT基因型与PD患者强直症状进展相关(P=0.03)。结论SNCA基因rs11931074位点多态性与帕金森病病情进展相关;rs11931074 TT基因型与帕金森病强直症状进展相关,随着病程进展基因rs11931074变异(GT+TT)携带者日常生活能力损害更严重。

Aim To investigate the correlation between rs 11931074 polymorphism of a-synuclein gene and progression of Parkinson’s disease(PD).Methods A case-control study was conducted to select 154 PD patients and 194 healthy patients admitted to Nanjing Brain Hospital from March 2014 to October 2017 as the study subjects.MassARRAY■SNP was used to analyze the polymorphism of SNCA gene rsl 1931074,and the patients were followed up for 3 years.Relevant scales such as UPDRS,HAMD,HAMA,PDNMSQ,PDSS and MMSE were evaluated at the baseline and the follow-up points respectively,and the difference age ratio(baseline and follow-up time difference value/years)was calculated to study whether SNCA gene rs 11931074 polymorphism was related to the progression of PD.Results Compared with the control group,the frequency of rs 11931074 T allele and TT genotype variation in PD group was higher than that in the control group(P=0.01).Linear correlation showed that the older the carrier of rs 11931074 mutation(GT+TT)was,the greater the impairment of daily living ability was(P=0.03).Multivariate linear regression showed that SNCA gene rsl 1931074 and PD patients had the most progressive ankylosis(P=0.036).The t-test results of independent samples showed that the TT genotype of SNCA gene rsl 1931074 was related to the progression of ankylosis in PD patients,with a statistically significant difference(P=0.03).Conclusion The polymorphism of SNCA gene rsl 1931074 is related to PD.The TT genotype of rsl 1931074 is related to the progression of tonic symptoms in PD patients,and with the progression of disease course,carriers of SNCA gene rsl 1931074 mutation(GT+TT)are more likely to have impairment of daily living ability.