Genes, cognition, and communication: insights from neurodevelopmental disorders.
Genes, cognition, and communication: insights from neurodevelopmental disorders.
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DOI：
10.1111/j.1749-6632.2009.04419.x
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发表时间：
2009-03
影响因子：
5.2
通讯作者：
Bishop DV
中科院分区：
文献类型：
--
作者：
Bishop DV
双胞胎和家庭研究表明，大多数认知特征都是中等到高度可遗传的。阅读障碍、自闭症和特殊语言障碍(SLI)等神经发育障碍也显示出很强的遗传影响。然而，事实证明，研究人员很难识别出可以解释认知特征或认知障碍的大量差异的基因。尽管这一观察结果可能看起来自相矛盾，但它符合一个多因素模型，即人类特征如何受到众多基因的影响，这些基因相互作用，并与环境相互作用，产生特定的表型。这样的模型也可以解释为什么在人类进化的过程中，基因对认知的影响并没有消失。本文回顾了近年来SLI与阅读障碍的联系和联系的研究，以阐明这些观点。非遗传基因突变(零星拷贝数变异)在引起自闭症中的作用也被讨论。最后，对ASPM和小脑磷脂基因等位基因变异的表型相关性进行了研究；由于未能在拥有不同基因版本的人中发现表型差异，人们最初对这些基因作为大脑大小或智力基因的兴趣已经减弱。目前流行的是，研究人员在认知和认知障碍的研究中包括等位基因变异的测量。重要的是要意识到，与这些变种相关的效应大小通常很小，如果没有极大的样本大小，就很难检测到。
Twin and family studies have demonstrated that most cognitive traits are moderately to highly heritable. Neurodevelopmental disorders such as dyslexia, autism, and specific language impairment (SLI) also show strong genetic influence. Nevertheless, it has proved difficult for researchers to identify genes that would explain substantial amounts of variance in cognitive traits or disorders. Although this observation may seem paradoxical, it fits with a multifactorial model of how complex human traits are influenced by numerous genes that interact with one another, and with the environment, to produce a specific phenotype. Such a model can also explain why genetic influences on cognition have not vanished in the course of human evolution. Recent linkage and association studies of SLI and dyslexia are reviewed to illustrate these points. The role of nonheritable genetic mutations (sporadic copy number variants) in causing autism is also discussed. Finally, research on phenotypic correlates of allelic variation in the genes ASPM and microcephalin is considered; initial interest in these as genes for brain size or intelligence has been dampened by a failure to find phenotypic differences in people with different versions of these genes. There is a current vogue for investigators to include measures of allelic variants in studies of cognition and cognitive disorders. It is important to be aware that the effect sizes associated with these variants are typically small and hard to detect without extremely large sample sizes.
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DOI：
10.1080/17470210500489372
发表时间：
2006-07
期刊：
Quarterly journal of experimental psychology (2006)
影响因子：
--
作者：
Bishop DV
通讯作者：
Bishop DV
影响因子：
2.5
作者：
D'Antuono, M;Inaba, Y;Avoli, M
通讯作者：
Avoli, M
影响因子：
9.8
作者：
Cope, N;Harold, D;Williams, J
通讯作者：
Williams, J
影响因子：
3.3
作者：
Baron-Cohen, S
通讯作者：
Baron-Cohen, S
影响因子：
30.8
作者：
Daly, MJ;Rioux, JD;Lander, ES
通讯作者：
Lander, ES