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认知基因组学:探寻神经心理功能的遗传根源。

Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

作者信息

Bearden Carrie E, Glahn David C

机构信息

Department of Psychiatry, University of California at Los Angeles.

Department of Psychiatry, Yale University.

出版信息

Neuropsychology. 2017 Nov;31(8):1003-1019. doi: 10.1037/neu0000412.

Abstract

OBJECTIVE

Human cognition has long been known to be under substantial genetic control. With the complete mapping of the human genome, genome-wide association studies for many complex traits have proliferated; however, the highly polygenic nature of intelligence has made the identification of the precise genes that influence both global and specific cognitive abilities more difficult than anticipated.

METHOD

Here, we review the latest developments in the genomics of cognition, including a discussion of methodological advances in the genetic analysis of complex traits, and shared genetic contributions to cognitive abilities and neuropsychiatric disorders.

RESULTS

A wealth of twin and family studies have provided compelling evidence for a strong heritable component of both global and specific cognitive abilities, and for the existence of "generalist genes" responsible for a large portion of the variance in diverse cognitive abilities. Increasingly sophisticated analytic tools and ever-larger sample sizes are now facilitating the identification of specific genetic and molecular underpinnings of cognitive abilities, leading to optimism regarding possibilities for novel treatments for illnesses related to cognitive function.

CONCLUSIONS

We conclude with a set of future directions for the field, which will further accelerate discoveries regarding the biological pathways relevant to cognitive abilities. These, in turn, may be further interrogated in order to link biological mechanisms to behavior. (PsycINFO Database Record

摘要

目的

长期以来,人们已知人类认知受到大量基因控制。随着人类基因组的完整图谱绘制完成,针对许多复杂性状的全基因组关联研究大量涌现;然而,智力的高度多基因性质使得确定影响整体和特定认知能力的精确基因比预期更加困难。

方法

在此,我们回顾认知基因组学的最新进展,包括对复杂性状遗传分析方法进展的讨论,以及对认知能力和神经精神疾病的共同遗传贡献。

结果

大量的双胞胎和家庭研究为整体和特定认知能力的强大遗传成分,以及存在对多种认知能力的大部分变异负责的“通才基因”提供了令人信服的证据。日益复杂的分析工具和不断扩大的样本量现在有助于确定认知能力的特定遗传和分子基础,从而使人对与认知功能相关疾病的新治疗方法的可能性感到乐观。

结论

我们最后提出了该领域的一系列未来方向,这将进一步加速有关与认知能力相关生物途径的发现。反过来,这些可能会被进一步探究,以便将生物机制与行为联系起来。(PsycINFO数据库记录)

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