ATXN2基因多态性位点rs7969300与精神分裂症的相关性研究

An association study of ATXN2 gene rs7969300 polymorphism with schizophrenia

目的探讨ATXN2基因SNP位点rs7969300与精神分裂症的关联。方法采用病例对照研究方法，以DSM—IV作为诊断标准，纳入精神分裂症患者（精神分裂症组，1207例）和正常对照组（对照组，1120例），采用PCR方法对ATXN2基因SNP位点rs7969300进行基因分型，采用PUNK软件进行统计分析。结果精神分裂症组与对照组的基因型频率[精神分裂症组（C／C：240，C／T：537，T／T：394），对照组（C／C：208，C／T：521，T／T：368），x2=1．001，P=0．606]和等位基因频率[精神分裂症组（C1017，T1325），对照组（C937，T1257），x2=0．238，P=0．626]均差异无统计学意义。结论本研究不支持ATXN2基因的rs7969300是精神分裂症的易感位点。

Objective To assess the association between rs7969300 polymorphism of ATXN2 gene and schizophrenia. Methods Totally 1 207 schizophrenia patients diagnosed in accordance with Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition（ DSM-Ⅳ ） and 1 120 healthy controls were involved.The rs7969300 gene SNP locus of ATXN2 gene was detected by ligase detection reaction polymerase chain reaction （PCR）. PLINK software was used for statistical analysis. Results The results showed that there were no significantly different genotype frequencies （ Schizophrenia patients （ C/C ： 240, C/T = 537, T/T： 394） , health controls （ C/C = 208, C/T ： 521, T/T ： 368 ） , x2 = 1.001, P= 0.606 ） and allele frequencies （ Schizophrenia patients （ C 1017, T 1325 ）, health controls （ C937, T1257 ）, X2 = 0.238, P = 0.626 ） of rs7969300 polymorphism between schizophrenia patients and healthy controls. Cenclusien This study does not support that ATXN2 rs7969300 is a susceptibility locus for schizophrenia.