摘要目的 探讨D-氨基酸氧化酶激活剂(D-amino acid oxidase activator,DAOA)基因rs2391191、rs947267、rs778294多态性与云南汉族人群精神分裂症发病的相关性.方法 采用聚合酶链式反应-限制性片段长度多态(PCR-RFLP)方法,对276例精神分裂症患者(患者组)和312名健康对照(对照组)DAOA基因rs2391191、rs947267和rs778294 3个位点的多态进行检测,在混合群体和性别分层群体中进行多态性与精神分裂症关联分析.结果 (1)患者组和对照组rs2391191、rs947267、rs778294 3个位点等位基因频率分布的差异无统计学意义(P>0.05).(2)患者组男性和对照组男性rs2391191等位基因的频率分布差异无统计学意义(P>0.05);患者组男性rs947267 C和rs778294 A等位基因的频率分别为0.406,0.184,对照组男性分别为0.327,0103,患者组高于对照组[校正相对风险度(OR)=1.41,95%可信区间(CI)=1.00～1.99,P=0.049;OR=1.91,95%CI=l.21～3.20,P=0.006].(3)对照组男性单倍型GAA的频率显著高于患者组男性(P=0.008).结论 DAOA基因的rs947267、rs778294位点可能与男性精神分裂症发病存在相关性,rs947267 C等位基因和rs778294 A等位基因可能是男性精神分裂症发病的危险因子;单倍型GAA可能是男性精神分裂症的保护性单倍型.

abstractsObjective To investigate the association between single nucleotide polymorphisms (SNPs) of D-amino acid oxidase activator (DAOA) gene and schizophrenia in Han population from Yunnan Province.Methods Two hundred and seventy-six schizophrenic patients and 312 healthy controls were recruited.Genotyping was performed using polymerase chain reaction(PCR)-restriction fragment length polymerase(RFLP).Odds ratios(ORs)and 95%confidence intervals(CIs)were calculated to evaluate the relationship between the gene polymorphisms and schizophrenia.Results (1)No significant differences of rs2391191,rs947267 and rs778294 allele frequencies were observed between the patients and controls,and the same results existed in the females.(2)In males,there was no significant difference in the allele frequency of rs2391191(P>0.05)between the two groups.The frequencies of rs947267 C allele and rs778294 A allele(0.406 and 0.184,respectively)were higher in patients compared to that in controls (0.327 and 0.103,respectively)[adjusted OR=1.41,95%CI=1.00-1.99,P=0.049;adjusted OR=1.91,95%CI=1.21-3.20,P=0.006].(3)In males,the frequency of haplotype GAA was significantly higher in controls than that in patients(P=0.008).Conclusions The DAOA gene rs947267 and rs778294 polymorphisms may be associated with schizophrenia in males.Rs947267 C allele and rs778294 A allele are possibly risk factors for schizophrenia in Yunnan Han male population.Haplotype GAA may be associated with schizophrenia as a protective factor in males.