目的：探讨不同Hoehn－Yahr（ H－Y）分期α－突触蛋白基因RS3831458多态性与帕金森病（ PD）的关系。方法采用基因测序法检测95例PD患者（ PD组）及95名健康对照者（正常对照组）的α－突触蛋白基因RS3831458多态性，分析其与PD病情严重程度的关系。结果与正常对照组比较，PD组AG缺失型基因频率显著升高，AG未缺失型频率显著降低（均P＜0．05）。与H－Y＜3级亚组比较，H－Y≥3级亚组AG缺失型基因频率显著增高，AG未缺失型频率显著降低（均P＜0．05）。 AG缺失型与PD病情严重程度呈正相关（χ2＝4．633，OR＝2．456，95％CI：1．076～5．605，P＜0．05），AG未缺失型与PD病情严重程度呈负相关（χ2＝4．633，OR＝0．407，95％CI：0．178～0．929，P＜0．05）。结论 RS3831458 AG缺失型引起的框移突变可加重PD病情。%Objective To investigate the relationship of RS3831458 polymorphism of α-synuclein gene and Parkinson’s disease ( PD) in different Hoehn-Yahr ( H-Y) grading.Methods The RS3831458 polymorphism of α-synuclein were detected by gene sequencing in 95 PD patients ( PD group) and 95 healthy controls ( normal control group) .The relationship between RS3831458 polymorphism and PD were analyzed.Results Compared with normal control group, the frequency of -/CT genotype in PD group was significantly higher, and the frequency of AG/CT genotype was significantly lower ( all P<0.05 ) .Compared with H-Y <3 PD subgroup, the frequency of -/CT genotype in H-Y≥3 PD subgroup was significantly higher, and the frequency of AG/CT genotype was significantly lower(all P<0.05).The-/CT genotype was positively correlated with the disease severity of PD (χ2 =4.633, OR=2.456, 95%CI:1.076-5.605, P<0.05), and AG/CT genotype was negatively correlated with the disease severity of PD (χ2 =4.633, OR=0.407, 95%CI:0.178-0.929, P<0.05).Conclusions The frameshift mutation of RS3831458-/CT genotype can exacerbate the PD.
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