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Gene Expr Patterns. 2020 Dec;38:119147. doi: 10.1016/j.gep.2020.119147. Epub 2020 Sep 25.
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Regulator of Calcineurin (RCAN): Beyond Down Syndrome Critical Region.钙调神经磷酸酶调节剂(RCAN):超越唐氏综合征关键区域。
Mol Cells. 2020 Aug 31;43(8):671-685. doi: 10.14348/molcells.2020.0060.
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Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders.全基因组关联研究与阅读相关:与神经发育障碍风险基因的重叠。
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特定阅读障碍的影像学遗传学研究的系统评价和荟萃分析。

A systematic review and meta-analysis of imaging genetics studies of specific reading disorder.

机构信息

Department of Psychology, University of Houston, Houston, TX, USA.

Texas Institute for Measurement, Evaluation, and Statistics, University of Houston, Houston, TX, USA.

出版信息

Cogn Neuropsychol. 2021 May;38(3):179-204. doi: 10.1080/02643294.2021.1969900. Epub 2021 Sep 16.

DOI:10.1080/02643294.2021.1969900
PMID:34529546
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8500943/
Abstract

The imaging genetics of specific reading disabilities (SRD) is an emerging field that aims to characterize the disabilities' neurobiological causes, including atypical brain structure and function and distinct genetic architecture. The present review aimed to summarize current imaging genetics studies of SRD, characterize the effect sizes of reported results by calculating Cohen's complete a Fisher's Combined Probability Test for genes featured in multiple studies, and determine areas for future research. Results demonstrate associations between SRD risk genes and reading network brain phenotypes. The Fisher's test revealed promising results for the genes and Future research should focus on exploratory approaches to identify previously undiscovered genes. Using comprehensive neuroimaging (e.g., functional and effective connectivity) and genetic (e.g., sequencing and epigenetic) techniques, and using larger samples, diverse stages of development, and longitudinal investigations, would help researchers understand the neurobiological correlates of SRD to improve early identification.

摘要

特定阅读障碍(SRD)的影像遗传学是一个新兴领域,旨在描述该障碍的神经生物学病因,包括异常的大脑结构和功能以及独特的遗传结构。本综述旨在总结当前关于 SRD 的影像遗传学研究,通过计算在多个研究中出现的基因的科恩氏完整 Fisher 联合概率检验来对报告结果的效应大小进行特征化,并确定未来的研究领域。结果表明,SRD 风险基因与阅读网络脑表型之间存在关联。Fisher 检验显示出基因和的有希望的结果。未来的研究应侧重于探索性方法,以识别以前未发现的基因。使用全面的神经影像学(例如功能和有效连接)和遗传(例如测序和表观遗传)技术,以及使用更大的样本、不同的发育阶段和纵向研究,将有助于研究人员了解 SRD 的神经生物学相关性,以改善早期识别。