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Association study of polymorphisms between DISC1 and schizophrenia in a Korean population.

机译:韩国人群中DISC1和精神分裂症之间的多态性关联研究。

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摘要

To further clarify schizophrenia (SCZ), disrupted in schizophrenia 1 (DISC1) is a promising candidate gene expressed predominantly within the hippocampus. Several lines of evidence suggest that DISC1 may be involved in susceptibility to SCZ. In this study, we investigated whether genetic polymorphisms in the coding region of DISC1 were associated with several SCZ clinical phenotypes in a Korean population. To examine any association between DISC1 and SCZ, we genotyped three clinical single nucleotide polymorphisms (SNPs) (rs3738401, R264Q; rs3738402, L465L; rs821616, S704C) in the coding region of the DISC1 gene using the Illumina Sentrix Array Matrix chip and direct sequencing in 303 patients with SCZ and 300 healthy controls. Our case-control analysis showed that none of these SNPs was associated with SCZ. In further endophenotype stratification, however, we found a significant association between rs821616 and the poor concentration subgroup of SCZ, determined using the Operational Criteria Checklist(codominant model, p=0.015). Our results suggest that DISC1 may be a susceptibility gene for poor concentration among Korean patients with SCZ.
机译:为了进一步阐明精神分裂症(SCZ),在精神分裂症1(DISC1)中被破坏的是一个有前途的候选基因,主要在海马体内表达。几条证据表明,DISC1可能与SCZ的易感性有关。在这项研究中,我们调查了DISC1编码区的遗传多态性是否与韩国人群中的几种SCZ临床表型有关。为了检查DISC1和SCZ之间的任何关联,我们使用Illumina Sentrix Array Matrix芯片对DISC1基因的编码区域中的三种临床单核苷酸多态性(SNP)(rs3738401,R264Q; rs3738402,L465L; rs821616,S704C)进行了基因分型303名SCZ患者和300名健康对照者。我们的病例对照分析表明,这些SNP均与SCZ无关。然而,在进一步的内表型分层中,我们发现rs821616与SCZ的低浓度亚组之间存在显着相关性,这是通过《操作标准清单》确定的(共有模型,p = 0.015)。我们的结果表明,DISC1可能是韩国SCZ患者中浓度低的易感基因。

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