• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>European psychiatry: the journal of the Association of European Psychiatrists >Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia.
【24h】

Analysis of HapMap tag-SNPs in dysbindin (DTNBP1) reveals evidence of consistent association with schizophrenia.

机译：对dysbindin（DTNBP1）中的HapMap标签-SNP的分析揭示了与精神分裂症一致关联的证据。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Dystrobrevin binding protein 1 (DTNBP1), or dysbindin, is thought to be critical in regulating the glutamatergic system. While the dopamine pathway is known to be important in the aetiology of schizophrenia, it seems likely that glutamatergic dysfunction can lead to the development of schizophrenia. DTNBP1 is widely expressed in brain, levels are reduced in brains of schizophrenia patients and a DTNBP1 polymorphism has been associated with reduced brain expression. Despite numerous genetic studies no DTNBP1 polymorphism has been strongly implicated in schizophrenia aetiology. Using a haplotype block-based gene-tagging approach we genotyped 13 SNPs in DTNBP1 to investigate possible associations with DTNBP1 and schizophrenia. Four polymorphisms were found to be significantly associated with schizophrenia. The strongest association was found with an A/C SNP in intron 7 (rs9370822). Homozygotes for the C allele of rs9370822 were more than two and a half times as likely to have schizophrenia compared to controls. The other polymorphisms showed much weaker association and are less likely to be biologically significant. These results suggest that DTNBP1 is a good candidate for schizophrenia risk and rs9370822 is either functionally important or in disequilibrium with a functional SNP, although our observations should be viewed with caution until they are independently replicated.
机译：dystrobrevin结合蛋白1（DTNBP1）或dysbindin被认为在调节谷氨酸能系统中至关重要。尽管已知多巴胺途径在精神分裂症的病因学中很重要，但似乎谷氨酸能功能障碍可能导致精神分裂症的发展。 DTNBP1在脑中广泛表达，在精神分裂症患者的脑中水平降低，并且DTNBP1多态性与脑表达降低有关。尽管进行了大量的遗传学研究，但DTNBP1多态性并未与精神分裂症的病因密切相关。使用基于单元型基于基因的标记方法，我们对DTNBP1中的13个SNP进行了基因分型，以研究与DTNBP1和精神分裂症的可能关联。发现四个多态性与精神分裂症显着相关。在内含子7（rs9370822）中发现了与A / C SNP的最强关联。 rs9370822的C等位基因纯合子患精神分裂症的可能性是对照组的两倍半以上。其他多态性显示弱得多的关联，并且不太可能具有生物学意义。这些结果表明，DTNBP1是精神分裂症风险的良好候选者，而rs9370822在功能上或与功能性SNP处于不平衡状态，尽管我们的观察结果应谨慎考虑，直到它们独立复制为止。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号