Mascheretti Sara, Riva Valentina, Feng Bei, Trezzi Vittoria, Andreola Chiara, Giorda Roberto, Villa Marco, Dionne Ginette, Gori Simone, Marino Cecilia, Facoetti Andrea
Child Psychopathology Unit, Scientific Institute, IRCCS E. Medea, 23842 Bosisio Parini, Italy.
École de Psychologie, Laval University, Québec, QC G1V 0A6, Canada.
Brain Sci. 2020 Dec 16;10(12):993. doi: 10.3390/brainsci10120993.
Although substantial heritability has been reported and candidate genes have been identified, we are far from understanding the etiopathogenetic pathways underlying developmental dyslexia (DD). Reading-related endophenotypes (EPs) have been established. Until now it was unknown whether they mediated the pathway from gene to reading (dis)ability. Thus, in a sample of 223 siblings from nuclear families with DD and 79 unrelated typical readers, we tested four EPs (i.e., rapid auditory processing, rapid automatized naming, multisensory nonspatial attention and visual motion processing) and 20 markers spanning five DD-candidate genes (i.e., , , , and ) using a multiple-predictor/multiple-mediator framework. Our results show that rapid auditory and visual motion processing are mediators in the pathway from -rs9853895 to reading. Specifically, the T/T genotype group predicts impairments in rapid auditory and visual motion processing which, in turn, predict poorer reading skills. Our results suggest that is related to reading via multisensory temporal processing. These findings support the use of EPs as an effective approach to disentangling the complex pathways between candidate genes and behavior.
尽管已有大量关于遗传力的报道且已鉴定出候选基因，但我们距离理解发育性阅读障碍（DD）背后的病因发病机制途径仍很遥远。与阅读相关的内表型（EPs）已经确立。到目前为止，尚不清楚它们是否介导了从基因到阅读（无）能力的途径。因此，在一个由223名来自患有DD的核心家庭的兄弟姐妹和79名无关的正常阅读者组成的样本中，我们使用多预测因子/多中介框架测试了四种内表型（即快速听觉处理、快速自动命名、多感官非空间注意力和视觉运动处理）以及跨越五个DD候选基因（即 、 、 、 和 ）的20个标记。我们的结果表明，快速听觉和视觉运动处理是从-rs9853895到阅读的途径中的中介因素。具体而言，T/T基因型组预测快速听觉和视觉运动处理存在缺陷，而这反过来又预测较差的阅读技能。我们的结果表明， 通过多感官时间处理与阅读相关。这些发现支持将内表型作为一种有效方法来理清候选基因与行为之间的复杂途径。
