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目的 分析中国人群α-突触蛋白A53T基因多态性与帕金森病(Parkinson’s disease,PD)的相关性.方法 采用常规聚合酶链式反应测定224例散发性PD患者(PD组)、154例健康体检人员(对照组)的α-突触蛋白A53T基因多态性.PD患者根据Hoehn-Yahr分级(H-Y分级)标准分为H-Y≥3组(n=172)与H-Y≤2.5组(n=52).使用SPSS 19.0软件对各组基因型和等位基因频率以及A53T基因的表达与PD病情严重程度的相关性进行x2检验分析.结果 PD组与对照组A53T基因型A/A频率分别为40(17.9％)、10(6.5％)(x2=10267,P=0.001,OR=3.13,95％ CI=1.514～6.473);等位基因A频率分别为160(35.7％)、70(22.7％)(x2=14.543,P=0.000, OR=1.889,95％ CI=1.359～2.625).H-Y≥3组A53T基因型A/A频率为30(17.4％),H-Y≤2.5组A53T基因型A/A频率10(19.2％),与对照组比较,均差异有统计学意义(P=0.003,0.007);H-Y≥3组等位基因A频率为122(35.5％),H-Y≤2.5组等位基因A频率为38(36.5％),与健康对照组比较,均差异有统计学意义(P=0.000,0.006).H-Y≥3组与H-Y≤2.5组A53T基因型A/A、等位基因A频率比较,均差异无统计学意义(P=0.768,0.841).结论 中国人群中A53T基因多态性为帕金森病发病的易感因素,但其与散发性PD病情严重程度无明显相关.“,”Objective To investigate the association of α-synaptophysin A53T gene polymorphism with parkinson’s disease(PD) in Chinese people.Methods The conventional polymerase chain reaction was used to detect the α-synaptophysin A53T gene polymorphism in 224 sporadic PD patients(PD group)and 154 healthy individuals(control group).According to the Hoehn-Yahr(H-Y) classification standard, PD patients were divided into H-Y ≥ 3 group(n=172) and H-Y ≤ 2.5 group(n=52).Each genotype and alleles frequencies as well as the A53T gene expression and their relation to the severity of parkinson’s disease were analyzed with Chi-square test of SPSS19.0.Results The frequency of the A53T genotype of A/A were 40(17.9％) and 10(6.5％) (x2 =10.267, P=0.001, OR=3.13,95％ CI =1.514-6.473) in the PD group and control group, respectively.The frequency of the allele A was 160(35.7％) and 70(22.7％) (x2 =14.543, P=0.000, OR=1.889,95％ CI =1.359-2.625) in the PD group and control group,respectively.The frequency of the A53T genotype of A/A was 30(17.4％) and l0 (19.2％) in the H-Y ≥ 3 group and H-Y ≤ 2.5 group, respectively, with significant difference (P=0.003,0.007) as compared to the control group.The frequency of the allele A was 122(35.5％) and 38(36.5％) in the the H-Y ≥ 3 group and H-Y ≤ 2.5 group,respectively, with significant difference (P=0.000,0.006) as compared to the control group.There was no statistically significant difference of the A53T genotype of A/A and the allele A between the H-Y≥3 group and H-Y≤2.5 group (P=0.768,0.841).Conclusion The A53T gene polymorphism is the risk factor of Parkinson’s disease in Chinese people, but it isn’t correlated to stage of sporadic parkinson’ s disease.