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Correlation among maternal risk factors, gene methylation and disease severity in females with autism spectrum disorder.

Roberta GalloAndrea StoccoroRomina CagianoVanessa NicolìRosanna RicciardiRaffaella TancrediRosanna TrovatoFilippo Maria SantorelliSara CalderoniFilippo MuratoriLucia MiglioreFabio Coppedè
Published in: Epigenomics (2022)
Aim: To detect early-life environmental factors leading to DNA methylation changes of autism spectrum disorder (ASD)-related genes in young ASD females and reveal epigenetic biomarkers of disease severity. Materials & methods: We investigated blood methylation levels of MECP2 , OXTR , BDNF , RELN , BCL2 , EN2  and HTR1A genes in 42 ASD females. Results: Maternal gestational weight gain correlated with BDNF methylation levels (Bonferroni-corrected p = 0.034), and lack of folic acid supplementation at periconception resulted in higher disease severity in the ASD children (Bonferroni-corrected p = 0.048). RELN methylation levels were inversely correlated with disease severity (Bonferroni corrected p = 0.042). Conclusion: The present study revealed gene-environment interactions and potential epigenetic biomarkers of disease severity in ASD females.
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