D-氨基酸氧化酶基因多态性与精神分裂症的关联研究  

Correlation of D-amino acid-oxidase gene polymorphism to schizophrenia

作　　者：李悦[1] 陈元堂[1] 胡江[1] 魏腊梅[1] 高海玲[1] 许昌泰[2] 

机构地区：[1]西安市精神卫生中心,陕西西安710061 [2]第四军医大学神经解剖学杂志编辑部,陕西西安710032

出　　处：《南方医科大学学报》2010年第9期2142-2144,2147,共4页Journal of Southern Medical University

基　　金：陕西省卫生厅科学研究基金(06034)

摘　　要：目的探讨D-氨基酸氧化酶(DAAO)基因多态性与精神分裂症的相关性。方法运用聚合酶链反应扩增及单核苷酸多态性的分子生物学技术,收集符合美国DSM-Ⅳ精神分裂症诊断标准的112个先证者及其父母组成的核心家系,对DAAO基因的rs3741775、rs3825251、rs3918347、rs4964770多态性分型,进行精神分裂症的DAAO基因多态性的关联分析和单体型相对风险率分析。结果 rs3918347等位基因与精神分裂症相关联(P=0.014),其中等位基因A是保护因素(Z=-2.37),G为危险因素(Z=2.37),A等位基因频率为0.41,G为0.59;rs3741775、rs3825251、rs4964770与精神分裂症无关联。三种单体型rs3825251-rs3918347的C/G、rs3918347-rs4964770的G/T、rs3825251-rs3918347-rs4964770中的C/G/T与精神分裂症有关联(P值分别为0.021、0.036、0.028,基因型频率分别为0.33、0.28、0.15)。结论 DAAO基因与精神分裂症相关联。Objective To investigate the genetic association between schizophrenia and polymorphism of D-amino acid-oxidase（DAAO） gene.Methods A total of 112 parent/offspring trios in which the proband met the Amerecan Classification and Diagnostic Criteria for Mental Disorders（Fourth Revised Edition） were included in this study.Correlation analysis between schizophrenia and DAAO gene polymorphism and haplotype relative risk analysis were conducetd by using PCR and SNP typing in all the nuclear families.Results The rs3918347 allele was correlated to schizophrenia（P=0.014）.Allele A was a protective factor（Z=-2.37） and allele G the hazard factor（Z=2.37）.The frequency of rs3918347 allele A was 0.41 and that of the allele G was 0.59.The rs3741775,rs3825251 and rs4964770 alleles were not associated with schizophrenia.Three haplotypes of C/G in the rs3825251-rs3918347,G/T in the rs3918347-rs4964770,C/G/T in the rs3825251-rs3918347-rs4964770 were associated with schizophrenia（P=0.021,0.036,and 0.028,with genotype frequencies of 0.33,0.28,and 0.15,respectively）.Conclusion The nucleotide polymorphism of DAAO gene is associated with schizophrenia in Chinese population.

关 键 词：精神分裂症 D-氨基酸氧化酶 基因多态性 关联分析 

分 类 号：R749.3[医药卫生—神经病学与精神病学]