COMT基因rs4680位点与中国汉族人群帕金森病遗传易患性关联性分析  

Association of the catechol-O-methyltransferase rs4680 polymorphism with Parkinson＇s disease in a Han Chinese cohort

作　　者：张又文[1,2] 冯淑君[2] 聂坤[2] 王丽敏[2] 朱睿明 唐红梅[2] 高靓[2] 赵馨[2] 王丽娟[2] 张玉虎[1] 

机构地区：[1]南方医科大学研究生学院,广州510515 [2]广东省人民医院(广东省医学科学院)神经内科广东省神经科学研究所

出　　处：《中华神经科杂志》2015年第1期18-22,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金项目（81371401）;广东省科技计划项目（2011B080701087）;广东省自然科学基金项目（S2013010014033）;广州市科技计划项目（2014J4100083,2013J4100068）

摘　　要：目的 探讨儿茶酚胺氧位甲基转移酶（COMT）基因rs4680位点Val158Met多态性与帕金森病遗传易患性的相关性.方法 采用聚合酶链反应-连接酶检测反应（polymerase chain reaction-ligase detection reaction,PCR-LDR）基因多态性测序方法,分析COMT rs4680位点基因型及等位基因频率在帕金森病患者（437例）和健康对照者（530人）间的分布差异.结果 帕金森病患者G等位基因频率为77.2％,A等位基因频率为22.8％,而在健康对照者分别为74.7％、25.3％,两组间COMTrs4680位点Val158Met等位基因频率分布差异没有统计学意义（P =0.199）.各基因型频率在帕金森病患者分别为G/G型57.4％、G/A型39.6％、A/A型3.0％,在健康对照者分别为54.9％、39.6％、5.5％,两组间基因型频率分布差异无统计学意义（P=0.156）.在校正性别、年龄混杂因素后经二元Logistic回归分析,COMT rs4680位点各基因型与帕金森病发病风险之间仍无相关性.结论 COMT基因r4680位点Val158Met多态性与中国汉族人群帕金森病易患性可能无关,进一步扩大样本量及在其他不同种族中的研究能更好地确定COMT rs4680位点Val158Met多态性在帕金森病发病风险中的作用.Objective To investigate the association between the catechol-O-methyltransferase （COMT） rs4680 Val158Met polymorphism and Parkinson＇ s disease （PD）.Methods Polymerase chain reaction-ligase detection reaction was performed to genotype the COMT rs4680 in a total of 967 subjects （437 PD patients and 530 healthy controls）.The distribution of COMT rs4680 allele frequencies and genotypes between PD patients and healthy controls was compared using the chi-square test.Results There were no significant differences in the allele distributions between PD patients and controls （G =77.2％,A =22.8％ in PD patients,and G=74.7％,A =25.3％ in controls,P=0.199）.The Val/Val,Val/Met,and Met/ Met genotype frequencies of rs4680 were not significantly different between PD patients and controls （57.4％,39.6％ and3.0％ in patients; 54.9％,39.6％ and 5.5％ in controls,P =0.156）.Binary Logistic regression analysis adjusting for gender and age of PD patients and controls in the model failed to find a significant association between COMT rs4680 Val158Met polymorphism and PD.Conclusions These results suggest that COMT rs4680 Val158Met polymorphism may not be a risk factor for the etiology of PD in Chinese population.Future studies with larger sample sizes in other ethnicities are warranted to a better understanding of the role of COMT rs4680 Val158Met polymorphism in the pathogenesis of PD.

关 键 词：帕金森病 儿茶酚O-甲基转移酶 多态现象 遗传 疾病遗传易感性 

分 类 号：R742.5[医药卫生—神经病学与精神病学]