TNFR1-383A/C基因多态性在散发性帕金森病患者中的分布及临床特点分析  

The influence of TNFR1-383A/C polymorphisms on the age of onset and clinical features in the patients with sporadic Parkinson's disease

作　　者：周涌涛[1] 刘佳[1] 张燕莉[1] 张新卿[1] 郭秀海[1] 陈彪[1] 贾建平[1] 

机构地区：[1]北京首都医科大学宣武医院神经内科,100053

出　　处：《中国神经免疫学和神经病学杂志》2013年第4期246-249,共4页Chinese Journal of Neuroimmunology and Neurology

基　　金：国家自然科学基金面上项目(30970926)

摘　　要：目的探讨TNFR1-383A/C基因多态性在散发性帕金森病(sporadic Parkinson disease,SPD)患者和健康人群中的分布,确定其对SPD患者发病年龄和临床特征的影响。方法应用荧光PCR技术对518例SPD患者和521名健康对照个体进行TNFR1-383A/C基因多态性检测,应用χ2检验、非条件Logistic回归模型分析、Kaplan-Meier和life table方法分析其基因多态性与SPD的相关性,及其对SPD发病年龄及临床特征的影响。结果病例组与对照组TNFR1-383A/C基因型及等位基因频率间无统计学差异。按照年龄分组分析发现,病例组发病年龄≥65岁亚组C等位基因频率显著低于对照组≥65岁亚组(6.74%vs.10.10%,P<0.05),并可减少晚发型帕金森病发病的危险性(OR=0.64,95%CI:0.43～0.97,P<0.05),但并未发现CC基因型在两亚组间存在统计学差异(P>0.05)。携带CC、CA和AA基因型的个体发病年龄中位数分别为54岁、62岁和61岁,各基因型者间发病年龄比较无统计学差异(P=0.16),携带CC基因型的个体并未延迟SPD的发病年龄。携带C和非C等位基因个体发病年龄的中位数均为61岁,携带C等位基因的个体并不能延迟SPD的发病年龄(P=0.86)。结论 TNFR1-383A/C等位基因可减少≥65岁人群发生帕金森病的危险,可能在SPD的发病过程中具有保护作用。TNFR1-383A/C基因多态性对SPD的发病年龄和临床特征没有明确影响。Objective To explore the distribution of TNFR1-383A/C polymorphism between controls and patients with sporadic Parkinson＇s disease（SPD）.To determine the relationship between its polymorphisms and SPD,its effect on the age of onset and clinical feature. Methods The TNFR1-383A/C gene polymorphisms of 518 cases and 521 controls were detected by Real-time PCR.The data was analyzed by SPSS 11.5 software for Windows.χ2 test,multivariate logistic regression model and survival analysis（Kaplan-Meier analysis and life table） to determine the association of TNFR1-383A/C polymorphism and SPD,the influence of TNFR1-383A/C polymorphisms on the age of onset and clinical features in SPD. Results There were no statistical difference of the distribution of TNFR1-383A/C genotypes and frequency of allelic genes between SPD and controls.Stratified by the age at onset,the frequency of C allele in the older case group（onset age ≥65 years subgroup） was significantly lower than that of the older control group（onset age ≥65 years subgroup）（6.74% vs.10.10%,P0.05）.C allele was found to reduce the risk of developing SPD after 65 years old（OR： 0.64,95%CI： 0.43-0.97,P 0.05）.The median ages of C/C,C/A and A/A genotype carriers were 54 years,62 years and 61 years,but there was no statistical difference between them（P=0.16）.The median onset ages of individuals with C allele and non-C allele were both 61 years.C allele did not delay the age of onset in SPD（P=0.86）.The genotype and allele did not influence disease onset（P0.05）. Conclusions TNFR1-383A/C C allele might reduce the risk of SPD in individuals≥65 years old,it might play a potential role in the pathogenesis of SPD.But C allele did not delay the age at onset of SPD in Chinese Han population.

关 键 词：散发性帕金森病 TNFR1-383A C 发病年龄 临床特征 

分 类 号：R742.5[医药卫生—神经病学与精神病学]