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Published on: September 6, 2024
Heterogeneous association between engrailed-2 and autism in the CPEA network
Camille W Brune1, Elena Korvatska, Kristina Allen-Brady
1Department of Psychiatry, Institute for Juvenile Research, University of Illinois-Chicago, Chicago, Illinois, USA.
Summary
The Engrailed-2 (EN2) gene variant rs1861972 shows a potential association with autism spectrum disorder risk. Further research is needed to confirm its role in autism etiology.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
Background:
- Autism is a neurodevelopmental disorder impacting social, communicative, and behavioral patterns.
- The Engrailed-2 (EN2) gene, located at chr7q36, is a candidate gene for autism due to its role in cerebellar development.
- Previous studies on EN2 and autism have yielded mixed results, particularly concerning intronic single nucleotide polymorphisms (SNPs).
Purpose of the Study:
- To investigate the association between the EN2 intronic SNP rs1861972 and autism spectrum disorder (ASD).
- To analyze the potential influence of rs1861972 on autism risk across different diagnostic groups and study sites.
Main Methods:
- Genotyping of the rs1861972 SNP in individuals from three NIH Collaborative Programs of Excellence in Autism (CPEA) network sites.
- Statistical analysis using recessive and additive models to assess the association with broad autism spectrum disorder and autistic disorder.
- Site-specific analyses were conducted to explore potential variations in allele transmission.
Main Results:
- A significant association was found between rs1861972 and broad autism spectrum disorder under a recessive genetic model.
- Site-specific analyses revealed differential allele transmission, suggesting potential contributions to various risk haplotypes.
- No significant association was detected under an additive model for either broad or narrow autism diagnostic groups.
Conclusions:
- The intronic SNP rs1861972 in the EN2 gene may contribute to the risk of autism spectrum disorders.
- Findings suggest that the association between EN2 variants and autism may be influenced by phenotypic differences and gene-gene interactions.
- Further investigation is warranted to elucidate the role of EN2 in autism etiology, considering potential modifying factors.
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