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Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism.

A E Shindler^1,2, E L Hill-Yardin³, S Petrovski⁴

¹Department of Physiology, Anatomy and Microbiology, School of Life Sciences, La Trobe University, Bundoora, VIC, 3086, Australia. aeshindler@students.latrobe.edu.au.

Journal of Autism and Developmental Disorders

|September 20, 2019

Summary

This summary is machine-generated.

Genetic biomarkers for gastrointestinal dysfunction in autism were explored. Specific gene variants (SNPs) in Prolactin, IL-10, CD38, and OXTR show potential as indicators for GI issues in autism.

Keywords:

Autism Constipation Diarrhea Gastrointestinal dysfunction Nausea Single nucleotide polymorphism

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Area of Science:

Genetics
Neuroscience
Gastroenterology

Background:

Gastrointestinal (GI) dysfunction is common in individuals with autism spectrum disorder (ASD).
The underlying genetic factors contributing to GI dysfunction in ASD remain largely unknown.
Identifying genetic biomarkers could improve understanding and management of GI issues in autism.

Purpose of the Study:

To investigate potential genetic biomarkers for gastrointestinal dysfunction symptoms in individuals with autism.
To explore the genetic risk associated with GI dysfunction in the context of autism.
To analyze single nucleotide polymorphisms (SNPs) related to GI dysfunction and autism.

Main Methods:

Analysis of single nucleotide polymorphisms (SNPs) in 60 participants with autism and/or GI dysfunction.
Statistical analysis to determine the significance of specific gene variants in relation to autism and GI dysfunction.
Evaluation of Prolactin (PRL), Interleukin 10 (IL-10), Cluster of Differentiation 38 (CD38), and oxytocin receptor (OXTR) SNPs.

Main Results:

Moderate statistical significance was observed for Prolactin (PRL) and Interleukin 10 (IL-10) SNPs in the autism group.
Strong statistical significance was found for Cluster of Differentiation 38 (CD38) and oxytocin receptor (OXTR) SNPs in the GI dysfunction group.
Specific SNPs (PRL, IL-10, CD38, OXTR) showed associations with GI dysfunction symptoms in the studied population.

Conclusions:

PRL, IL-10, CD38, and OXTR gene variants are potential biomarkers for GI dysfunction in autism.
Further research is warranted to validate these SNP expressions as reliable biomarkers.
Understanding these genetic links may pave the way for targeted interventions for GI issues in autism.