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基因调控与基因组时代人类复杂性状的结构。

Gene regulation and the architecture of complex human traits in the genomics era.

机构信息

Criminology and Criminal Justice, Saint Louis University, 3550 Lindell Blvd., St. Louis, MO 63013, United States.

Department of Genetics and Edison Family Center for Genome Sciences and Systems Biology, Washington University in St. Louis School of Medicine, Couch Biomedical Research Building, St. Louis, MO 63110, United States.

出版信息

Curr Opin Psychol. 2019 Jun;27:93-97. doi: 10.1016/j.copsyc.2019.02.011. Epub 2019 Mar 5.

DOI:10.1016/j.copsyc.2019.02.011
PMID:30933894
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10868639/
Abstract

Virtually all human psychological and behavioral traits are at least partially heritable. For nearly a century, classical genetic studies have sought to understand how genetic variation contributes to human variation in these traits. More recently, genome-wide association studies have identified large numbers of specific genetic variants linked with complex traits. Many of these variants fall outside of protein-coding genes, in putative gene regulatory elements. This suggests that some fraction of causal human genetic variation acts through gene regulation. New developments in the field of regulatory genomics offer resources and methods to understand how genetic variants that alter gene expression contribute to human psychology and risk for psychiatric disease.

摘要

几乎所有人类的心理和行为特征至少部分是可遗传的。近一个世纪以来,经典的遗传学研究一直致力于了解遗传变异如何导致这些特征在人类中的差异。最近,全基因组关联研究已经确定了许多与复杂特征相关的特定遗传变异。这些变异中的许多都位于蛋白质编码基因之外,位于潜在的基因调控元件中。这表明因果人类遗传变异的一部分是通过基因调控起作用的。调控基因组学领域的新发展为理解改变基因表达的遗传变异如何影响人类心理和精神疾病风险提供了资源和方法。

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本文引用的文献

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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.发现首个与注意缺陷多动障碍全基因组显著相关的风险位点。
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation.利用 44 个人类组织的基因调控图谱来研究复杂疾病和特征相关的变异。
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An atlas of chromatin accessibility in the adult human brain.成人脑中染色质可及性图谱。
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Human-specific features of spatial gene expression and regulation in eight brain regions.八个脑区空间基因表达和调控的人类特异性特征。
Genome Res. 2018 Aug;28(8):1097-1110. doi: 10.1101/gr.231357.117. Epub 2018 Jun 13.
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Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS.利用表观基因组学和接触组学数据来研究 GWAS 中的 SNP 对。
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An integrative analysis of non-coding regulatory DNA variations associated with autism spectrum disorder.自闭症谱系障碍相关非编码调控 DNA 变异的综合分析。
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