Background: Previous studies report that various single nucleotide polymorphisms (SNP) in the Disrupted-in Schizophrenia 1 (DISC1) gene are closely associated with schizophrenia, but there are no studies that assess the relationship of age of onset of schizophrenia with these SNPs.
Objective: Investigate the relationship between the rs821633 SNP in the DISC1 gene and the occurrence and age of onset of schizophrenia in Han Chinese.
Methods: We used the TaqMan genotyping technology to examine the rs821633 SNP in the DISC1 gene among 315 individuals who developed schizophrenia prior to 19 years of age ('early-onset'), 407 individuals who developed schizophrenia when 19 years of age or older ('late-onset'), and 482 healthy controls. We used survival analyses to investigate the relationship between the rs821633(C) risk allele and the age of onset of schizophrenia.
Results: Compared to the prevalence in healthy controls, the prevalence of the C/C genotype of rs821633 and of the C allele in rs821633 were significantly greater in individuals with early-onset schizophrenia (X (2)=7.17, df=1, p=0.007; X (2)=7.20, df=2, p=0.032) and significantly greater in individuals with late-onset schizophrenia (X (2)=5.36, df=1, p=0.022; X (2)=6.58, df=2, p=0.041). However, there were no significant differences in the prevalence of the C/C genotype or the C allele between individuals with early-onset and late-onset schizophrenia. Kaplan-Meier survival analyses found no significant association between the rs821633(C) risk allele and age of onset in schizophrenia.
Conclusion: We confirm the association of polymorphism in the rs821633 SNP in the DISC1 gene with schizophrenia among Han Chinese, but we found no association between the rs821633(C) risk allele and the age of onset in individuals with schizophrenia.
背景: 既往研究报告显示精神分裂症断裂基因1(Disrupted-in-Schizophrenia 1 gene,DISC1)中不同的单核苷酸多态性(single nucleotide polymorphisms,SNP)与精神分裂症密切相关，但目前尚无研究评估了SNP与精神分裂症发病年龄之间的关系。.
目的: 探讨DISC1基因中rs821633位点的SNP和中国汉族精神分裂症患者的发病及首发年龄的相关性。.
方法: ：我们采用TaqMan基因分型技术对315例19岁之前发病的精神分裂症患者（即“早发性”）、407例19岁后发病的精神分裂症患者（即“非早发性”）和482名健康对照进行DISC1基因rs821633位点的SNP检测。我们使用生存分析研究rs821633(C)位点的危险等位基因与精神分裂症患者首发年龄之间的关系。.
结果: 相比健康对照组，rs821633位点C/C基因型和C等位基因型频率分布在早发性(X2=7.17,df=1,p=0.007;X2=7.20,df=2,p=0.032)和晚发性(X2=5.36,df=1,p=0.022;X2=6.58,df=2,p=0.041)精神分裂症患者中显著较高。然而，C/C基因型或C等位基因型的携带率在早发和晚发性精神分裂症患者中没有显著差异。Kaplan-Meier生存分析发现rs821633(C)危险等位基因与精神分裂症首发年龄之间没有显著相关性。.
结论: 我们证实了DISC1基因rs821633位点多态性的SNP与中国汉族人群精神分裂症之间存在相关性，但未发现rs821633(C)危险等位基因与精神分裂症首发年龄之间的相关性。.
中文全文: 本文全文中文版从2016年4月25日起在http://dx.doi.org/10.11919/j.issn.1002-0829.215120可供免费阅览下载.
Keywords: China; DISC1 gene; age of onset; schizophrenia; single nucleotide polymorphism; transmission disequilibrium test.