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绘制基因对人类大脑结构的影响图谱。

Mapping genetic influences on human brain structure.

作者信息

Thompson Paul, Cannon Tyrone D, Toga Arthur W

机构信息

Laboratory of Neuro Imaging and Brain Mapping Division, Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA 90095-1769, USA.

出版信息

Ann Med. 2002;34(7-8):523-36. doi: 10.1080/078538902321117733.

Abstract

Recent advances in brain imaging and genetics have empowered the mapping of genetic and environmental influences on the human brain. These techniques shed light on the 'nature/nurture' debate, revealing how genes determine individual differences in intelligence quotient (IQ) or risk for disease. They visualize which aspects of brain structure and function are heritable, and to what degree, linking these features with behavioral or cognitive traits or disease phenotypes. In genetically transmitted disorders such as schizophrenia, patterns of brain structure can be associated with increased disease liability, and sites can be mapped where non-genetic triggers may initiate disease. We recently developed a large-scale computational brain atlas, including data components from the Finnish Twin registry, to store information on individual variations in brain structure and their heritability. Algorithms from random field theory, anatomical modeling, and population genetics were combined to detect a genetic continuum in which brain structure is heavily genetically determined in some areas but not others. These algorithmic advances motivate studies of disease in which the normative atlas acts as a quantitative reference for the heritability of structural differences and deficits in patient populations. The resulting genetic brain maps isolate biological markers for inherited traits and disease susceptibility, which may serve as targets for genetic linkage and association studies. Computational methods from brain imaging and genetics can be fruitfully merged, to shed light on the inheritance of personality differences and behavioral traits, and the genetic transmission of diseases that affect the human brain.

摘要

脑成像和遗传学领域的最新进展使得绘制基因和环境对人类大脑的影响成为可能。这些技术为“先天/后天”之争提供了线索,揭示了基因如何决定个体在智商(IQ)方面的差异或患病风险。它们直观呈现出大脑结构和功能的哪些方面是可遗传的,以及遗传程度如何,并将这些特征与行为、认知特征或疾病表型联系起来。在精神分裂症等遗传疾病中,大脑结构模式可能与患病风险增加相关,还能确定非遗传触发因素可能引发疾病的部位。我们最近开发了一个大规模的计算脑图谱,纳入了芬兰双胞胎登记处的数据成分,用于存储大脑结构个体差异及其遗传力的信息。结合了随机场理论、解剖建模和群体遗传学的算法,以检测一种遗传连续体,其中大脑结构在某些区域由基因高度决定,而在其他区域则不然。这些算法上的进展推动了疾病研究,在这类研究中,标准图谱可作为患者群体结构差异和缺陷遗传力的定量参考。由此产生的基因脑图谱分离出了遗传性状和疾病易感性的生物学标记,这些标记可作为基因连锁和关联研究的靶点。脑成像和遗传学的计算方法可以有效融合,以阐明人格差异和行为特征的遗传,以及影响人类大脑疾病的遗传传递。

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