目的探讨D-氨基酸氧化酶激活剂(DAOA)基因rs2391191位点多态性 (SNP)与中国汉族精神分裂症患者发病及首发年龄的相关性。方法采用TaqMan基因分型技术，对359例早发精神分裂症患者（早发组，起病年龄≤18岁），443例非早发精神分裂症患者（非早发组，起病年龄>18岁）和302例正常对照者（对照组）DAOA基因rs2391191位点进行多态性检测，并应用生存分析研究危险等位基因（A）与精神分裂症患者首发年龄的相关性。 结果早发组与对照组相比，rs2391191位点等位基因及基因型频率分布的差异有统计学意义 (χ2=7.79, P=0.01; χ2=10.01, P=0.01)；非早发组与对照组相比，rs2391191位点等位基因及基因型频率分布的差异有统计学意义 (χ2=5.17, P=0.02; χ2=7.80, P=0.02) ；Kaplan-Meier分析显示，早发精神分裂症携带危险等位基因(A)与不携带危险等位基因(A)首发年龄的差异有统计学意义 (χ2=4.55, P=0.03)。结论DAOA基因rs2391191位点多态性与中国汉族早发精神分裂症的发病和首发年龄显著相关。

ObjectiveTo investigate the correlation of the polymorphism of locus rs2391191 of D-amino acid oxidase activator (DAOA) gene and the incidence and age of first onset of schizophrenia of Chinese Han patients.MethodsThe polymorphism of locus rs2391191 of DAOA gene of 359 patients with early-onset schizophrenia (early onset group, the age of first onset of schizophrenia ≤18 years old), 443 patients with non early onset schizophrenia (non early onset group, the age of first onset of schizophrenia >18 years old), and 302 normal controls (control group) was detected by TaqMan genotyping technique. The correlation of risk allele with the age of first onset of schizophrenia was investigated by the survival analysis.ResultsCompared with the control group, the distribution of allele and genotype frequencies of locus rs2391191 of the early onset group and non early onset group was statistically different (χ2=7.79, P=0.01; χ2=10.01, P=0.01 and χ2=5.17, P=0.02; χ2=7.80, P=0.02). Kaplan-Meier analysis showed that the age of first onset of schizophrenia of patients of the early onset group who carried the risk allele was statistically different from that of patients who didn't carried the risk allele (χ2=4.55, P=0.03).ConclusionThe polymorphism of locus rs2391191 of DAOA gene was significantly correlated with the incidence and age of first onset of schizophrenia of Chinese Han patients.