中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2015年
10期
870-875
,共6页
吴国平%万大勇%康文岩%刘军
吳國平%萬大勇%康文巖%劉軍
오국평%만대용%강문암%류군
帕金森病%α-突触核蛋白%多态性,单核苷酸%认知障碍%睡眠障碍
帕金森病%α-突觸覈蛋白%多態性,單覈苷痠%認知障礙%睡眠障礙
파금삼병%α-돌촉핵단백%다태성,단핵감산%인지장애%수면장애
Parkinson disease%Alpha-synuclein%Polymorphism,single nucleotide%Cognition disorders%Sleep disorders
目的 探讨α-突触核蛋白(SNCA)中2个单核苷酸多态性(SNP)位点rs894278和rs11931074与帕金森病非运动症状之间的关系.方法 选择2012年至2014年上海交通大学医学院附属瑞金医院桐庐分院第一人民医院和上海交通大学医学院附属瑞金医院神经内科门诊、住院诊治的120例帕金森病患者与100名健康对照,采用统一帕金森病评定量表(UPDRS)的第三部分(UPDRS-Ⅲ)以及Hoehn&Yahr分期、简易精神状态检查量表(MMSE)、汉密尔顿抑郁评定量表17(HAMD-17)、快速眼动期睡眠行为障碍(RBD)筛查问卷(RBDSQ)、罗马Ⅲ便秘标准(ROME-Ⅲ)进行运动症状与非运动症状的评定;利用聚合酶链反应结合连接酶检测反应方法扩增汉族帕金森病人群中SNCA 2个SNP位点rs894278和rs11931074,分析各基因型及其和非运动症状之间的关系.结果 对照组2个SNP位点各基因型之间年龄、性别、非运动症状评分差异无统计学意义,而帕金森病组2个SNP位点各基因型之间年龄、性别、UPDRS-Ⅲ评分以及Hoehn&Yahr分期差异也无统计学意义.SNP位点各基因型之间,MMSE评分、RBDSQ评分、便秘、HAMD-17评分差异均无统计学意义.进一步分析显示,对于SNP位点rs894278,GG型中可能的临床RBD所占比例比GT型、TT型更大(GG52.2％,12/23;GT 18.2％,10/55;TT 21.4％,9/42;x2=9.254,P=0.002;x2=6.424,P=0.005).利用二分类Logistic回归分析在校正年龄、性别影响因素后,发现rs894278 GG基因型明显增加帕金森病患者RBD的风险(OR =5.367,95％ CI=1.607 ～ 17.925,P=0.006).rs11931074的等位基因与基因型在伴/不伴RBD两组帕金森病患者之间的分布差异无统计学意义.结论 SNCA基因多态性位点rs894278与RBD相关联,rs11931074与RBD无关.
目的 探討α-突觸覈蛋白(SNCA)中2箇單覈苷痠多態性(SNP)位點rs894278和rs11931074與帕金森病非運動癥狀之間的關繫.方法 選擇2012年至2014年上海交通大學醫學院附屬瑞金醫院桐廬分院第一人民醫院和上海交通大學醫學院附屬瑞金醫院神經內科門診、住院診治的120例帕金森病患者與100名健康對照,採用統一帕金森病評定量錶(UPDRS)的第三部分(UPDRS-Ⅲ)以及Hoehn&Yahr分期、簡易精神狀態檢查量錶(MMSE)、漢密爾頓抑鬱評定量錶17(HAMD-17)、快速眼動期睡眠行為障礙(RBD)篩查問捲(RBDSQ)、囉馬Ⅲ便祕標準(ROME-Ⅲ)進行運動癥狀與非運動癥狀的評定;利用聚閤酶鏈反應結閤連接酶檢測反應方法擴增漢族帕金森病人群中SNCA 2箇SNP位點rs894278和rs11931074,分析各基因型及其和非運動癥狀之間的關繫.結果 對照組2箇SNP位點各基因型之間年齡、性彆、非運動癥狀評分差異無統計學意義,而帕金森病組2箇SNP位點各基因型之間年齡、性彆、UPDRS-Ⅲ評分以及Hoehn&Yahr分期差異也無統計學意義.SNP位點各基因型之間,MMSE評分、RBDSQ評分、便祕、HAMD-17評分差異均無統計學意義.進一步分析顯示,對于SNP位點rs894278,GG型中可能的臨床RBD所佔比例比GT型、TT型更大(GG52.2％,12/23;GT 18.2％,10/55;TT 21.4％,9/42;x2=9.254,P=0.002;x2=6.424,P=0.005).利用二分類Logistic迴歸分析在校正年齡、性彆影響因素後,髮現rs894278 GG基因型明顯增加帕金森病患者RBD的風險(OR =5.367,95％ CI=1.607 ～ 17.925,P=0.006).rs11931074的等位基因與基因型在伴/不伴RBD兩組帕金森病患者之間的分佈差異無統計學意義.結論 SNCA基因多態性位點rs894278與RBD相關聯,rs11931074與RBD無關.
목적 탐토α-돌촉핵단백(SNCA)중2개단핵감산다태성(SNP)위점rs894278화rs11931074여파금삼병비운동증상지간적관계.방법 선택2012년지2014년상해교통대학의학원부속서금의원동려분원제일인민의원화상해교통대학의학원부속서금의원신경내과문진、주원진치적120례파금삼병환자여100명건강대조,채용통일파금삼병평정량표(UPDRS)적제삼부분(UPDRS-Ⅲ)이급Hoehn&Yahr분기、간역정신상태검사량표(MMSE)、한밀이돈억욱평정량표17(HAMD-17)、쾌속안동기수면행위장애(RBD)사사문권(RBDSQ)、라마Ⅲ편비표준(ROME-Ⅲ)진행운동증상여비운동증상적평정;이용취합매련반응결합련접매검측반응방법확증한족파금삼병인군중SNCA 2개SNP위점rs894278화rs11931074,분석각기인형급기화비운동증상지간적관계.결과 대조조2개SNP위점각기인형지간년령、성별、비운동증상평분차이무통계학의의,이파금삼병조2개SNP위점각기인형지간년령、성별、UPDRS-Ⅲ평분이급Hoehn&Yahr분기차이야무통계학의의.SNP위점각기인형지간,MMSE평분、RBDSQ평분、편비、HAMD-17평분차이균무통계학의의.진일보분석현시,대우SNP위점rs894278,GG형중가능적림상RBD소점비례비GT형、TT형경대(GG52.2％,12/23;GT 18.2％,10/55;TT 21.4％,9/42;x2=9.254,P=0.002;x2=6.424,P=0.005).이용이분류Logistic회귀분석재교정년령、성별영향인소후,발현rs894278 GG기인형명현증가파금삼병환자RBD적풍험(OR =5.367,95％ CI=1.607 ～ 17.925,P=0.006).rs11931074적등위기인여기인형재반/불반RBD량조파금삼병환자지간적분포차이무통계학의의.결론 SNCA기인다태성위점rs894278여RBD상관련,rs11931074여RBD무관.
Objective To investigate the association between the single nucleotide polymorphisms (SNPs) rs894278 and rs11931074 of α-synuclein (SNCA) and non motor symptoms in Parkinson' s disease (PD).Methods One hundred and twenty PD patients and 100 healthy controls enrolled from Tonglu Hospital Affiliated to Ruijin Hospital and Ruijin Hospital,Shanghai Jiaotong University School of Medicine from 2012 to 2014 were recruited and the motor subscale of the Unified Parkinson' s Disease Rating Scale Ⅲ (UPDRS-Ⅲ) was used to evaluate motor function.The Mini-Mental State Examination (MMSE),17-item Hamilton Rating Scale (HAMD-17),the Rapid Eye Movement Behavior Disorder Screening Questionnaire (RBDSQ) and the ROME-Ⅲ criteria for chronic constipation were used to evaluate non motor symptoms.SNCA SNPs (rs894278,rs11931074) were genotyped by direct sequencing.Results There was no statistically significant difference in age,sex,non motor symptoms scores among the three genotypes of the two SNPs in control group.There was no statistically significant difference in age,sex,UPDRS-Ⅲ scores and Hoehn-Yahr stage among the three genotypes of the two SNPs in PD group.The results demonstrated that there was no association between the two SNPs and RBDSQ scores,HAMD-17 scores,MMSE scores and constipation in PD patients.However,additional analysis showed that patients with GG rs894278 had a greater proportion of clinical probable RBD than those with GT and TT types (GG 52.2％,12/23;GT 18.2％,10/55;TT 21.4％,9/42;x2 =9.254,P=0.002;x2 =6.424,P=0.005).In Logistic regression analyses adjusting for age and sex,we observed that rs894278 GG genotype could increase the risk of RBD in PD patients (OR =5.367,95％ CI =1.607-17.925,P =0.006).There was no association of RBD with allelic and genotypic distributions of SNCA rs11931074.Conclusion The results indicate that the rs894278 polymorphism correlates with RBD,while rs11931074 does not.
