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An assessment of gene‐by‐environment interactions in developmental dyslexia‐related phenotypes
Authors:S. Mascheretti  A. Bureau  M. Battaglia  D. Simone  E. Quadrelli  J. Croteau  M. R. Cellino  R. Giorda  S. Beri  M. Maziade  C. Marino
Affiliation:1. The Academic Centre for the study of Behavioural Plasticity, Vita‐Salute San Raffaele University, , Milan, 20132 Italy;2. Department of Social and Preventive Medicine, Laval University, , Québec, G1V 0A6 Canada;3. Centre de Recherche de l'Institut universitaire en santé mentale de Québec, , Québec, G1J 2?G3 Canada;4. Department of Clinical Neuroscience, Scientific Institute San Raffaele, , Milan, 20132 Italy;5. Department of Child Psychiatry, Scientific Institute Eugenio Medea, , Bosisio Parini, Lecco, 23842 Italy;6. Centro Regionale di Riferimento per i Disturbi dell'Apprendimento – CRRDA, ULSS 20, , Verona, 37122 Italy;7. Molecular Biology Laboratory, Scientific Institute Eugenio Medea, , Bosisio Parini, Lecco, 23842 Italy;8. Department of Psychiatry and Neuroscience, Laval University, , Québec, G1V 0A6 Canada
Abstract:While the genetic and environmental contributions to developmental dyslexia (DD) have been studied extensively, the effects of identified genetic risk susceptibility and of specified environmental hazardous factors have usually been investigated separately. We assessed potential gene‐by‐environment (GxE) interactions on DD‐related reading, spelling and memory phenotypes. The presence of GxE effects were investigated for the DYX1C1, DCDC2, KIAA0319 and ROBO1 genes, and for seven specified environmental moderators in 165 nuclear families in which at least one member had DD, by implementing a general test for GxE interaction in sib‐pair‐based association analysis of quantitative traits. Our results support a diathesis‐stress model for both reading and memory composites: GxE effects were found between some specified environmental moderators (i.e. maternal smoke during pregnancy, birth weight and socio‐economic status) and the DYX1C1‐1259C/G marker. We have provided initial evidence that the joint analysis of identified genetic risk susceptibility and measured putative risk factors can be exploited in the study of the etiology of DD and reading‐related neuropsychological phenotypes, and may assist in identifying/preventing the occurrence of DD.
Keywords:Candidate genes  developmental dyslexia  environmental risk factors  gene‐by‐environment interaction  siblings pairs
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