跨膜蛋白175、三甲基巴豆酰辅酶A羧化酶和α－突触核蛋白基因的三个单核苷酸多态性与中国北方汉族帕金森病遗传易患性的相关性分析

A relevant research of connections between the genetic susceptibility of Parkinson＇s disease and three single nucleotide polymorphisms in transmembrane protein 175, methylcrotonoyl-coenzyme A carboxylase 1 and alpha-synuclein in northern Chinese Han population

目的探索跨膜蛋白175（TMEM175）、三甲基巴豆酰辅酶A羧化酶（MCCC1）和α－突触核蛋白（SNCA）基因的3个单核苷酸多态性（SNPs）位点（rs34311866、rs12637471、rs356182）与中国北方汉族人群中散发性帕金森病的相关性，为帕金森病的遗传学研究提供相关的基础数据。方法收集2008—2012年就诊于中国医科大学附属第一医院神经内科的中国北方汉族的散发性帕金森病患者310例及同期就诊于中国医科大学附属第一医院其他科室无神经系统疾病体征者339名作为对照。常规静脉取血，运用限制性片段长度多态性聚合酶链反应方法，调查上述3个SNPs在中国北方汉族人群中的分布，并分析其与帕金森病发病之间的相关性。结果SNCA rs356182的等位基因A能降低中国北方汉族人群患帕金森病的风险[帕金森病组A%＝20.97%（130/620），对照组A%＝29.20%（198/678），χ^2＝11.632，P＝0.001]；而MCCC1 rs12637471的等位基因G（χ^2＝0.009，P＝0.926）和TMEM175 rs34311866的等位基因C（χ^2＝1.369，P＝0.242）均对帕金森病发病没有明显影响。结论在中国北方汉族人群中，SNCA rs356182与帕金森病发病有相关性，而TMEM175 rs34311866和MCCC1 rs12637471则与帕金森病无显著关联。

ObjectiveTo investigate if there were connections between sporadic Parkinson＇s disease （PD） and three single nucleotide polymorphisms （SNPs） in transmembrane protein 175 （TMEM175 rs34311866）, methylcrotonoyl-coenzyme A carboxylase 1 （MCCC1 rs12637471） and alpha-synuclein （SNCA rs356182） in Northern Chinese Han population, and provide basic data for PD genetic research.MethodsThe research recruited 310 sporadic PD patients in northern Chinese Han population from the Department of Neurology, the First Hospital of China Medical University between 2008 and 2012, and 339 controls without nervous system manifestations from other departments of the First Hospital of China Medical University during the same period. We applied cleaved amplification polymorphism sequence-tagged sites polymerase chain reaction-restriction fragment length polymorphism method to detect the genotype distributions of the SNPs in the northern Chinese Han population, and calculated relevance with PD of the SNPs by chi-square test.ResultsAccording to the data, the allele A of SNCA rs356182 had positive effects on the onset of PD in northern Chinese Han population compared with controls （patient group A%=20.97%（130/620）, control group A%=29.20%（198/678）, χ^2=11.632, P=0.001）; allele G of MCCC1 rs12637471 （χ^2=0.009, P=0.926） and allele C of TMEM175 rs34311866 （χ^2=1.369, P=0.242） showed no significant differences between PD and control groups.ConclusionSNCA rs356182 was related with PD, and TMEM175 rs34311866 （M311Y） as well as MCCC1 rs12637471 showed no correlation with PD in the northern Chinese Han population.