Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Trends Cogn Sci. 2011 Sep;15(9):428-35. doi: 10.1016/j.tics.2011.07.002. Epub 2011 Aug 2.
Cognitive impairments are central to schizophrenia and could mark underlying biological dysfunction but efforts to detect genetic associations for schizophrenia or cognitive phenotypes have been disappointing. Phenomics strategies emphasizing simultaneous study of multiple phenotypes across biological scales might help, particularly if the high heritabilities of schizophrenia and cognitive impairments are due to large numbers of genetic variants with small effect. Convergent evidence is reviewed, and a new collaborative knowledgebase - CogGene - is introduced to share data about genetic associations with cognitive phenotypes, and enable users to meta-analyze results interactively. CogGene data demonstrate the need for larger studies with broader representation of cognitive phenotypes. Given that meta-analyses will probably be necessary to detect the small association signals linking the genome and cognitive phenotypes, CogGene or similar applications will be needed to enable collaborative knowledge aggregation and specify true effects.
认知障碍是精神分裂症的核心特征，可能标志着潜在的生物学功能障碍，但寻找与精神分裂症或认知表型相关的遗传关联的努力一直令人失望。强调跨生物尺度同时研究多个表型的表型组学策略可能会有所帮助，特别是如果精神分裂症和认知障碍的高遗传性是由于大量具有小效应的遗传变异引起的。本文回顾了一致性证据，并介绍了一个新的合作知识库 - CogGene - 来共享与认知表型相关的遗传关联数据，并使用户能够进行交互式的元分析结果。CogGene 数据表明需要更大规模的研究，以更广泛地代表认知表型。鉴于可能需要进行荟萃分析来检测将基因组与认知表型联系起来的小关联信号，因此需要 CogGene 或类似的应用程序来实现协作知识聚合和指定真实效果。
