精神分裂症患者ZNF804A基因rs7597593多态性与工作记忆能力的关联研究  

Association study of ZNF804A gene polymorphism rs7597593 with schizophrenia and working memory

作　　者：陈熊鹰[1] 吉峰[2] 翟金国[2] 陈敏[2] 张秋梅[2] 高立[2] 孙晓晨[1] 刘真[1] 张志芳[1] 于萍[1] 李君[1] 

机构地区：[1]北京师范大学认知神经科学与学习国家重点实验室,脑与认知科学研究院,IDG/麦戈文脑科学研究院,北京100875 [2]济宁医学院,山东省高校人文社会科学研究基地“行为与健康”研究基地

出　　处：《中华行为医学与脑科学杂志》2014年第10期893-896,共4页Chinese Journal of Behavioral Medicine and Brain Science

基　　金：国家重点基础研究发展计划“973”项目（2014CB846103）;国家自然科学基金项目（30800294）;北京高等学校青年英才项目（YETP0249）;山东省自然科学基金（ZR2012HM065）;中央高校基本科研业务费专项资金;认知神经科学与学习国家重点实验室开放课题基金（KFY811）

摘　　要：目的 探究ZNF804A基因rs7597593多态位点与精神分裂症的关系,并进一步考察rs7597593多态性对精神分裂症认知功能的影响.方法 采用病例对照研究方法,以DSM-Ⅳ为诊断标准,纳入精神分裂症患者767例和健康对照组690例.使用RFLP实验方法对ZNF804A基因的rs7597593多态位点进行基因分型;使用1-back任务错误率为认知功能评定指标;使用SPSS 19.0软件进行统计分析.结果 rs7597593多态性与精神分裂症在基因型频率及等位基因频率上均差异无统计学意义（x2值分别为1.519和1.263;P值分别为0.468和0.261）;但随智力水平的提高,其与精神分裂症关联性变强.当智商≥110时,基因型和等位基因频率在精神分裂症组和对照组间均差异有统计学意义（x2值分别为9.411和6.529;P值分别为0.009和0.011）;且当智商≥110时,携带风险等位基因T的个体（0.197±0.171）比非携带者（0.167±0.165）在1-back任务上错误率更高（F=6.854,P=0.009）.结论 ZNF804A基因的rs7597593多态性的风险人群可能是认知能力保持相对完整的精神分裂症;在此风险人群中,风险等位基因T可能导致认知功能下降.Objective To assess the association between rs7597593 polymorphism of ZNF804A gene and schizophrenia,and to assess the relationship between rs7597593 polymorphism and working memory.Methods Schizophrenia patients and healthy controls were diagnosed in accordance with Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition （DSM-Ⅳ） ; 767 schizophrenia patients and 690 healthy controls were involved.Restriction fragment length polymorphism （RFLP） was carried out to genotype rs7597593 polymorphism.The cognitive function of working memory was assessed by the N-back task.Statistical analyses were carried out with SPSS19.0 software.Results The study found no significantly different genotype frequencies （x2=1.519,P=0.468） and allele frequencies（x2=1.263,P=0.261） of rs7597593 polymorphism between schizophrenia patients and healthy controls,however in the subgroup of higher IQ （IQ ≥ 110）,there were significant different distributions of both genotype and allele （x2 =9.411 and 6.529; P=0.009 and 0.011 respectively）.It was also found in this subgroup that risk T allele was associated with more error at 1-back task （F=6.854,P=0.009）.Conclusion These results indicated that rs7597593 polymorphism was associated with individuals having spared cognitive function; carriers of T allele had worse cognitive function,which maybe a pathway that it contributes to schizophrenia.

关 键 词：ZNF804A基因 rs7597593多态性 精神分裂症 认知功能 

分 类 号：R749.3[医药卫生—神经病学与精神病学]