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 d, 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 DCDC2, KIAA0319, FOXP2, SLC2A3, and ROBO1. 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，旨在描述障碍的神经生物学原因，包括非典型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 SRD 的影像遗传学研究，通过计算 Cohen's d 表征报告结果的效应大小，完成多项研究中的基因的 Fisher 组合概率检验，并确定未来研究的领域。结果证明了 SRD 风险基因与阅读网络大脑表型之间的关联。Fisher 的测试揭示了基因DCDC2、KIAA0319、FOXP2、SLC2A3和ROBO1 的有希望的结果。未来的研究应侧重于探索性方法来识别以前未发现的基因。使用全面的神经影像学（例如，功能性和有效连接性）和遗传（例如，测序和表观遗传）技术，并使用更大的样本、不同的发育阶段和纵向调查，将有助于研究人员了解 SRD 的神经生物学相关性，以改进早期识别。