α-突触核蛋白基因多态性与帕金森病非运动症状的相关性研究

Wu Guoping, Wang Dayong, Kang Wenyan, L. Jun
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Jun","doi":"10.3760/CMA.J.ISSN.1006-7876.2015.10.011","DOIUrl":null,"url":null,"abstract":"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.","PeriodicalId":10143,"journal":{"name":"中华神经科杂志","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2015-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"Association study of α-synuclein gene polymorphism and non motor symptoms in Parkinson's disease\",\"authors\":\"Wu Guoping, Wang Dayong, Kang Wenyan, L. 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引用次数: 1

摘要

目的探讨α-突触核蛋白(SNCA) rs894278和rs11931074单核苷酸多态性与帕金森病(PD)非运动症状的关系。方法选取2012 - 2014年在瑞金医院附属桐庐医院和上海交通大学医学院瑞金医院入组的PD患者120例和健康对照100例,采用统一帕金森病评定量表Ⅲ(UPDRS-Ⅲ)的运动分量表评估运动功能。采用简易精神状态检查(MMSE)、17项汉密尔顿评定量表(HAMD-17)、快速眼动行为障碍筛查问卷(RBDSQ)和ROME-Ⅲ慢性便秘标准评估非运动症状。SNCA snp (rs894278,rs11931074)通过直接测序进行基因分型。结果对照组两种snp基因型患者的年龄、性别、非运动症状评分差异均无统计学意义。PD组两种snp基因型在年龄、性别、UPDRS-Ⅲ评分和Hoehn-Yahr分期上差异均无统计学意义。结果显示,这两个snp与PD患者的RBDSQ评分、HAMD-17评分、MMSE评分和便秘无相关性。然而,进一步分析显示,GG rs894278型患者临床可能发生RBD的比例高于GT和TT型患者(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)。在调整年龄和性别的Logistic回归分析中,我们观察到rs894278 GG基因型可增加PD患者RBD的风险(OR =5.367,95% CI =1.607-17.925,P =0.006)。RBD与SNCA rs11931074的等位基因和基因型分布没有关联。结论rs894278多态性与RBD相关,rs11931074与RBD无关。
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Association study of α-synuclein gene polymorphism and non motor symptoms in Parkinson's disease
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.
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中华神经科杂志
中华神经科杂志 Medicine-Neurology (clinical)
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6868
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