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

Author:

Gallo Roberta1,Stoccoro Andrea1ORCID,Cagiano Romina2,Nicolì Vanessa1,Ricciardi Rosanna1,Tancredi Raffaella2,Trovato Rosanna2,Santorelli Filippo Maria2,Calderoni Sara23,Muratori Filippo23,Migliore Lucia1,Coppedè Fabio1ORCID

Affiliation:

1. Department of Translational Research & of New Surgical & Medical Technologies, University of Pisa, Via Roma 55, Pisa, 56126, Italy

2. IRCCS Stella Maris Foundation, Calambrone, Pisa, 56128, Italy

3. Department of Clinical & Experimental Medicine, University of Pisa, Via Roma 55, Pisa, 56126, Italy

Abstract

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.

Funder

University of Pisa

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

Reference67 articles.

1. WHO. Autism spectrum disorders (2021). www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders

2. Gender Specific Differences in Disease Susceptibility: The Role of Epigenetics

3. SFARI gene database. Human gene module (2021). https://gene.sfari.org/database/human-gene/

4. Genetics and epigenetics of autism spectrum disorder—current evidence in the field

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