NAPE-PLD与FAAH基因多态性与中国汉族精神分裂症的相关性研究  

Association of polymorphisms of NAPE-PLD and FAAH genes with schizophrenia in Chinese Han population

出　　处：《中华医学遗传学杂志》2018年第2期215-218,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨NAPE-PLD基因rs12540583和FAAH基因rs2295633、rs324420、rs6429600多态性以及两个基因的交互作用与汉族精神分裂症发生的相关性。方法应用PCR-限制性片段长度多态性及DNA测序技术对345例精神分裂症患者和403名正常对照进行基因多态性检测，运用SPSS 17.0对数据进行分析，用多因素降维（multifactor dimensionality reduction，MDR）分析基因之间的交互作用。结果rs12540583基因型和等位基因的分布在两组之间的差异具有统计学意义（χ2＝17.18，P〈0.0125；χ2＝18.94，P〈0.0125），且AC基因型为精神分裂症发病的风险基因型，C等位基因为风险等位基因。MDR分析提示NAPE-PLD和FAAH基因的交互作用与精神分裂症相关，而四因子模型（rs12540583、rs324420、rs2295633以及rs6429600）是其最佳模型。结论NAPE-PLD基因rs12540583位点的AC基因型以及C等位基因为精神分裂症的风险因素。NAPE-PLD与FAAH基因在精神分裂症的发病中存在交互作用，最佳模型为四因子模型。ObjectiveTo assess the association of polymorphisms of N-acyl-phosphatidylethanolamine-phospholipase D （DAPE-PLD） and fatty acid amide hydrolase （FAAH） genes, as well as their interaction, with schizophrenia.MethodsPolymorphisms of NAPE-PLD rs12540583 and FAAH rs324420, rs2295633, and rs6429600 were determined with PCR - restriction fragment length polymorphism assay and Sanger sequencing. The genotypes of 345 subjects of Han Chinese origin diagnosed with schizophrenia and a 403 controls were compared. The results were analyzed with SPSS 17.0, and the interaction of the two genes was analyzed using a multifactor dimensionality reduction （MDR） method.ResultsThe frequency of NAPE-PLD rs12540583 polymorphism was significantly different between the two groups under both dominant and additive models （χ2=17.18 vs. χ2=18.94, P〈0.0125）. The frequencies of AC genotype and C allele of the patient group at rs12540583 were higher than those of the controls, and the interaction of NAPE-PLD and FAAH was associated with schizophrenia. A four-loci model （rs12540583, rs324420, rs2295633 and rs6429600） can best model the interaction between NAPE-PLD and FAAH.Conclusion The AC genotype and C allele of NAPE-PLD rs12540583 locus are risk factors for schizophrenia, and the interaction between NAPE-PLD rs12540583 and FAAH rs324420, rs2295633 and rs6429600 is associated with schizophrenia.

关 键 词：精神分裂症 基因多态性 NAPE-PLD基因 FAAH基因 交互作用 

分 类 号：R749.3[医药卫生—神经病学与精神病学]