不同Hoehn-Yahr分期α-突触蛋白基因RS3831458多态性与帕金森病的关系

Relationship of RS3831458 polymorphism of α-synuclein and Parkinson's disease in different Hoehn-Yahr grading

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（χ^2=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（χ^2=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-synuelein 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 （x^2= 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 （x^2 = 4. 633, OR = 0. 407, 95% CI：0. 178 - 0. 929, P 〈 0.05）. Conclusions The frameshifl mutation of RS3831458-/CT genotype can exacerbate the PD.