新疆地区帕金森病遗传易感性与COMT和CYP1A1基因多态性相互关系的研究  

The correlation research among the polymorphisms of COMT gene,CYP 1A1 gene and Parkinson disease in Xinjiang

作　　者：宋秋霞[1] 张晓莺[1] 李燕云[1] 

机构地区：[1]新疆生产建设兵团医院神经内科,新疆乌鲁木齐830000

出　　处：《中风与神经疾病杂志》2014年第2期153-157,共5页Journal of Apoplexy and Nervous Diseases

基　　金：兵团科技计划资助项目(No.2011BA047)

摘　　要：目的探讨儿茶酚胺氧位甲基转移酶(catechol-O-methyltransferase,COMT)基因G1947A多态性和细胞色素P450 1A1(cytochrome P4501A1,CYP 1A1)基因Msp I多态的独立及其协同作用与新疆地区帕金森病(Parkinson’s disease,PD)遗传易感性的关系。方法应用聚合酶链反应-限制性片段长度多态性分析法(PCRRFLP)分析新疆地区237例散发性PD患者和247例健康对照者的COMT基因G1947A多态性、CYP 1A1基因Msp I多态性。结果 (1)COMT基因G1947A多态性、CYP 1A1基因Msp I多态性分布在PD组与对照组间无统计学差异(均P>0.05)。均按民族、性别、年龄分层后,两种基因的多态性分布在各亚组PD组和对照组间无统计学差异(均P>0.05)。(2)COMT G/G基因型和CYP 1A1 T/T基因型间的协同作用可使新疆维吾尔族人群中PD的发生风险增加3.288倍(OR=3.288)。(3)COMT G/G基因型与CYP 1A1 T/C基因型间的协同作用可分别使新疆维吾尔族人群中、年龄≥60岁人群中PD的发生风险下降0.245倍、0.451倍(维吾尔族人群:OR=0.245、年龄≥60岁人群:OR=0.451)。结论 COMT基因、CYP 1A1基因不同基因型间的协同作用可增加或减少新疆地区部分人群PD的发生风险。Objective To explore the independent and synergic role between the polymorphisms of catechol-o-meth- yltransferase （COMT） gene G1947A and cytochrome P4501A1 （CYP1A1） gene Msp I in genetic susceptibility to Parkinson disease （PD） in Xinjiang region. Methods The polymorphisms of COMT gene and CYP1 A1 gene was determined by pol- ymerase chain-reaction restriction fragment length polymorphism （PCR-RFLP） in 237 idiopathic PD patients and 247 health controls in Xinjiang region. Results （ 1 ） There is no statistical difference in the distribution of the polymorphism of COMT gene and CYP1 A1 gene between PD group and control group （ all P 〉 0.05 ）. stratified by nationality, gender and age, there is no statistical difference with the distribution of the polymorphism of both gene between each subgroup of PD group and control group （ all P 〉 0.05 ）. （2） Synergistic effect of G/G genotype of COMT gene and T/T genotype of CYP1 A1 gene was associated with a 3. 288-fold increased relative risk of PD of Uygurs in Xinjiang （ OR = 3. 288 ）. （ 3 ） Synergistic effect of G/ G genotype of COMT gene and T/C genotype of CYP1A1 gene was separately associated with a 0. 245-fold and 0.451-fold decreased relative risk of PD of Uygurs and age ≥60 years old people in Xinjiang（ Uygurs： OR = 0. 245 .age 〉/60 years old：OR = 0.451 ）. Conclusion The synergistic function of the polymorphism of COMT gene and CYP1 A1 gene might be increase or decrease the risk of PD of some population in Xinjiang region.

关 键 词：帕金森病 COMT基因 CYP 1A1基因 多态性 

分 类 号：R742.5[医药卫生—神经病学与精神病学]