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Gene x environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms

Abstract : Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model. However, despite advances in epidemiological, molecular and clinical genetics, the genetic risk factors remain difficult to identify, with the exception of a few chromosomal disorders and several single gene disorders associated with an increased risk for autism. Furthermore, several studies suggest a role of environmental factors in autism spectrum disorders (ASD). First, arguments for a genetic contribution to autism, based on updated family and twin studies, are examined. Second, a review of possible prenatal, perinatal, and postnatal environmental risk factors for ASD are presented. Then, the hypotheses are discussed concerning the underlying mechanisms related to a role of environmental factors in the development of ASD in association with genetic factors. In particular, epigenetics as a candidate biological mechanism for gene × environment interactions is considered and the possible role of epigenetic mechanisms reported in genetic disorders associated with ASD is discussed. Furthermore, the example of in utero exposure to valproate provides a good illustration of epigenetic mechanisms involved in ASD and innovative therapeutic strategies. Epigenetic remodeling by environmental factors opens new perspectives for a better understanding, prevention, and early therapeutic intervention of ASD.
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Submitted on : Friday, January 22, 2021 - 3:37:00 PM
Last modification on : Thursday, January 28, 2021 - 7:45:52 PM

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Sylvie Tordjman, Eszter Somogyi, Nathalie Coulon, Solenn Kermarrec, David Cohen, et al.. Gene x environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms. Frontiers in Psychiatry, Frontiers, 2014, 5, ⟨10.3389/fpsyt.2014.00053⟩. ⟨hal-03118801⟩

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