中国维吾尔族人群HCN1基因多态性与精神分裂症风险的关联研究  

Association Study of HCN1 Gene Polymorphisms with the Risk of Schizophrenia in Chinese Uygur Population

作　　者：李秀丽 马川川 陈剑华 潘敦 贺林 伊琦忠[4] 师咏勇[1,2] LI Xiuli;MA Chuanchuan;CHEN Jianhua;PAN Dun;HE Lin;YI Qizhong;SHI Yongyong(Department of genetics,College of Life Science,Anhui Medical University,Hefei,Anhui 230031,China;Bio-X Institutes,Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders(Ministry of Education)and the Collaborative Innovation Center for Brain Science,Shanghai Jiao Tong University,Shanghai 200030,China;Shanghai Key Laboratory of Psychotic Disorders,Shanghai Mental Health Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200030,China;Psychological Medicine Center,The First Affiliated Hospital of Xinjiang Medical University,Urumqi,Xinjiang 830054,China.)

机构地区：[1]安徽医科大学生命科学学院遗传学系,安徽合肥230031 [2]Bio-X研究院,发育和神经精神疾病遗传学重点实验室(教育部)和上海交通大学脑科学协同创新中心,上海200030 [3]上海交通大学医学院上海市精神卫生中心上海市精神病学重点实验室,上海200030 [4]新疆医科大学第一附属医院心理医学中心,新疆乌鲁木齐830054

出　　处：《复旦学报（自然科学版）》2019年第4期473-481,共9页Journal of Fudan University：Natural Science

基　　金：国家重点基础研究发展计划(2015CB559100);国家高技术研究发展计划(2012AA02A515,2012AA021802);国家自然科学基金(31325014,81130022,81272302,81421061);上海市学术研究负责人项目(15XD1502200);国家残疾青年专业人才支持计划,上海市精神病学重点实验室(13dz2260500);上海市教育委员会和上海市教育发展基金会(12SG17)

摘　　要：HCN1(超极化激活的环核苷酸门控钾通道1)是一种特殊的电压门控离子通道.目前的研究结果显示,HCN1在新皮质、海马、小脑皮质和脑干中表达丰富.最近的一项研究表明,在欧洲人群中HCN1基因可能是精神分裂症的易感基因.然而,维吾尔族人群是汉族和西欧的混合后代;尚不清楚在维吾尔族人群中HCN1基因是否也与精神分裂症有关.因此,该文章研究了中国维吾尔族人群中HCN1基因多态性是否与精神分裂症相关,我们对来自中国维吾尔族人群985例精神分裂症病例和1218例健康对照中5个SNPs进行了基因分型.此外,我们还分析了两种估算的SNPs(rs1501357,rs9292918)是否为维吾尔族人群精神分裂症的风险基因.结果发现精神分裂症患者与健康受试者之间等位基因频率,基因型频率和单倍型频率差异无统计学意义(P>0.05).我们的研究表明HCN1基因中的常见变异可能在中国维吾尔族人群的精神分裂症患者中不起主要作用.HCN1(Hyperpolarization-Activated Cyclic Nucleotide-Gated Potassium Channel 1)is a special voltage-gated ion channel,and it s highly expressed in the neocortex,hippocampus,cerebellar cortex,and brainstem.A recent study demonstrated that the HCN1 is a susceptibility gene for schizophrenia in European.However,the Chinese Uygur population is a mixed result of Han and Western Europe;it is unclear whether HCN1 is also associated with schizophrenia.To investigate whether single nucleotide polymorphisms(SNPs)of the HCN1 gene were associated with schizophrenia,we selected five SNPs to genotyped involving 985 schizophrenia cases and 1218 normal Controls recruited from the Chinese Uygur population,and we also analyzed the two imputed SNPs rs1501357,rs9292918.No significant difference of allele frequency,genotype frequency,and haplotype frequency was found between schizophrenia patients and healthy subjects(P>0.05).Our study suggests that common variants of the HCN1 gene may not play a major role in schizophrenia in the Chinese Uygur population.

关 键 词：HCN1 精神分裂症 单核苷酸多态性 维吾尔族 

分 类 号：R743.3[医药卫生—神经病学与精神病学]