Rare variants targeting genes that encode cytochrome P450 enzymes in Autism Spectrum Disorder

Xavier Santos, João; Marques, Ana Rita; Martiniano, Hugo; Vilela, Joana; Rasga, Célia; Oliveira, Guiomar; Moura Vicente, Astrid

http://hdl.handle.net/10400.18/6666

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Authors

Moura Vicente, Astrid

Abstract(s)

Autism Spectrum Disorder (ASD) heritability estimates of 50-80% support the hypothesis that gene-environment interactions play a role in this pathology. ASD risk has been associated with early exposure to various xenobiotics that are cleared in the liver by Cytochrome P450 enzymes. We therefore explored the hypothesis that variants in CYP450 genes, which define the rapid or slow metabolizer status of their carriers, may render individuals exposed to certain toxicants more susceptible to brain disruption during early development.