汉族核心家系中强迫症与儿茶酚胺氧位甲基转移酶和单胺氧化酶基因多态性的关联分析

Analysis of the association between the polymorphism of catechol-o-methyltransferase and monoamine oxidase A and the obsessive-compulsive disorder in nuclear families in Han nationality

目的分析儿茶酚胺氧位甲基转移酶(catechol-O-methyltransferase,COMT)基因和单胺氧化酶(mono-amine oxidases A,MAOA)基因T941G多态位点与汉族强迫症的关联。方法应用特异性引物序列聚合酶链反应检测134个强迫症核心家系(患者及其生物学父母)的COMT基因val158met和MAOA基因T941G多态性。采用单体型相对危险度分析(haplotype relative risk,HRR)及传递不平衡检验(transmission disequilibrium test,TDT)进行关联分析。结果 112个和103个核心家系分别进入COMT基因和MAOA基因的TDT和HRR分析。TDT检测Mc-Nemar检验(P=0.15)及HRR检测(2=3.58,P=0.06)均不支持COMT val158met多态位点存在传递不平衡;MAOA基因T941G位点的TDT(2=4.78,P=0.04)及HRR分析显示存在传递不平衡(2=7.63,P<0.01),等位基因T较多地传给下一代(57.22%)。结论本研究提示MAOA基因T941G多态性在汉族人种中可能与强迫症关联,不支持COMT基因val158met多态性与强迫症关联。

Objective To explore the association between val158met polymorphism of catechol-O-methyltransferase（COMT） gene and T941G polymorphism of monoamine oxidase A（MAOA） gene and obsessive-compulsive disorder（OCD） in nuclear families in Han nationality.Methods One hundred thirty four OCD patients of Han nationality and their biological parents were included in this study.DNA was genotyped using specific sequence polymerase chain reaction（SSPCR） and allele inheritance was examined using the transmission disequilibrium test（TDT） and haplotype relative risk（HRR） test.Results One hundred twelve and 103 out of 134 nuclear families were analyzed for COMT gene and MAOA gene under TDT and HRR,respectively.There was no transmission disequilibrium exist for COMT gene val158met polymorphism（TDT： P=0.15,HRR： X2=3.58,P=0.06） while there was significant transmission disequilibrium in TDT（X2=4.78,P=0.04） and HRR（X2=7.63,P=0.01）for MAOA gene T941G polymorphism.The rate of allele T transmitted to the children was 57.22%.Conclusions This study suggests that MAOA gene T941G polymorphism may be associated with OCD while COMT gene may not be directly associated with OCD in our patient population.