新疆地区帕金森病患者COMT基因多态性与临床症状的关系分析  

The Relationship between the Polymorphisms of COMT Gene and Clinical Symptoms in Parkinson's Disease in Xinjiang Region

作　　者：刘学玲[1] 宋秋霞[1] 曾文晶[1] 李燕云[1] 张晓莺[1] Xinjiang Region LIU Xue-ling;SONG Qiu-xia;ZENG Wen-ring;LI Yan-yun;ZHANG Xiao- ying(Department of Neurology, Bingtuan Hospital ofXinjiang, Urumqi 830002, Chin)

机构地区：[1]新疆生产建设兵团医院神经内科,乌鲁木齐830002

出　　处：《中国临床神经科学》2018年第2期162-176,共15页Chinese Journal of Clinical Neurosciences

基　　金：兵团科技计划资助项目(编号:2011BA047)

摘　　要：目的探讨儿茶酚胺氧位甲基转移酶(COMT)基因G1947A多态性与新疆地区帕金森病(PD)的相关性,比较其多态性对PD患者临床症状的影响。方法收集新疆地区231例PD患者(PD组)和248例健康对照者(对照组)为研究对象。PD组按照PD相关评分标准完成统一的调查表、统一帕金森病评定量表(UPDRS)、Hoehn-Yahr(H-Y)分级量表、简易智能状态检查(MMSE)量表、日常生活能力问卷(ADL)和神经精神问卷(NPI)评分。应用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)分析COMT-G1947A多态性,比较新疆地区COMT-G1947A多态性对PD临床症状的影响。结果 (1)在年龄≤61岁研究对象中,PD组COMT-G1947A基因型分布与对照组比较,差异有统计学意义(P=0.031);PD组G/A基因型频率(52.6%)高于对照组(36.0%)。(2)总体样本中,COMT-G1947A不同基因型间的PD患者是否"N"字型进展,差异有统计学意义(P=0.023);进一步按性别、民族、年龄进行分层分析,女性、维吾尔族、年龄>61岁群体中PD患者3种COMT基因型间是否"N"字型进展,差异有统计学意义(分别为P=0.032、P=0.034、P=0.032)。(3)总体样本中,COMT-G1947A的A等位基因对PD组临床症状的影响差异无显著性(均P>0.05);进一步按性别、民族、年龄进行分层分析,女性PD患者COMT-G1947A的A等位基因对其首发部位的影响差异有显著性(P=0.018),汉族、年龄>61岁PD患者COMT-G1947A的A等位基因对PD患者是否为单侧起病的影响差异有显著性(分别为P=0.045、P=0.038)。结论 (1)COMT-G1947A多态性可能是新疆地区年龄≤61岁PD患者的潜在易感位点,G/A基因型是其易感基因型;(2)新疆地区PD患者携带COMT基因A/A基因型者"N"字型进展的发生率可能较高,这种趋势主要在女性、维吾尔族、年龄>61岁PD患者中存在;(3)COMT-G1947A多态性A等位基因对女性PD患者首发部位、汉族、年龄>61岁是否单侧起病可能有影响。Aim To explore the association between the polymorphisms of G1947 A of catechol-Omethyltransferase（COMT） gene in Parkinson＇s disease（PD） in Xinjiang region, and to investigate the effect between the polymorphisms of COMT-G1947 A and clinical symptoms in PD. Methods The COMT-G1947 A polymorphism was determined by polymerase chain-reaction restriction fragment length polymorphism（PCR-RFLP） in 231 patients with PD and 248 health controls. The unified questionnaire, the Unified Parkinson＇s Disease Rating Scale（UPDRS）, Hoehn-Yahr（H-Y） Rating Scale, Mini-Mental State Examination（MMSE） Scale, Activities of Daily Living（ADL） and Neuropsychiatric Inventory（NPI） were administered to PD patients. The effects of the polymorphisms of COMT-G1947 A on clinical symptoms of PD patients were compared in Xinjiang region. Results（1）In age ≤ 61 year-old group, there was significant difference in the genotype frequency distribution of polymorphism of COMT-G1947 A between PD group and the control group（P=0.031）, the G/A genotype frequency of PD group（52.6%） was higher than those in the control group（36.0%）.（2）In the overall sample, there was statistical significance in the progression of ＂N＂ type of PD patients in three different genotypes of COMT-G1947 A（P=0.023）. By stratified analyzing gender, nationality and age, there was statistical significance in the females, the Uygurs and the age 61 year-old group of the progression of ＂N＂ type of PD patients in three different genotypes of COMT-G1947 A（P=0.032, P=0.034, P=0.032 respectively）.（3）In the overall sample, the effects of A allele of COMT gene on the clinical symptoms of PD patients was no statistically significant（all P 0.05）. By stratified analyzing gender, nationality and age in the females group, the effect of A allele of COMT gene on the initial part of PD patients was statistically significant（P=0.018）, in the Hans group and the age 61 year-old group, the effect of A allele of COMT gene on t

关 键 词：帕金森病 COMT基因 临床症状 新疆地区 

分 类 号：R742.5[医药卫生—神经病学与精神病学]