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Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism

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Abstract

This study investigated genetic biomarkers for gastrointestinal dysfunction symptoms in order to provide further information on the genetic risk for GI dysfunction associated with autism. The single nucleotide polymorphisms of sixty participants with autism and/or gastrointestinal dysfunction were analyzed. The autism group had a moderate statistical significance for the Prolactin (PRL) (OR 6.35, p value 0.069) and Interleukin 10 (IL-10) (OR 0.25, p value 0.087) SNPs. The GI dysfunction group had a strong statistical significance for the Cluster of Differentiation 38 (CD38) (OR 6.88, p value 0.005) and oxytocin receptor (OXTR) (OR 0.27, p value 0.036) SNPs. The potential use of PRL, IL-10, CD38, and OXTR SNP expression as biomarkers for GI dysfunction in autism warrants further research.

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Abbreviations

ASD:

Autism spectrum disorder

CD38:

Cluster of differentiation 38

CNV:

Copy number variation

COMT:

Catechol-O-methyltransferase

GI:

Gastrointestinal

HLA-DQA1*0201:

Major histocompatibility complex, class II, DQ alpha 1

HTR3A:

5-Hydroxytryptamine receptor 3A

IL10:

Interleukin 10

INF-γ:

Interferon gamma

MTHFR:

Methylenetrtrahydrofolate reductase

NCIB:

National Center for Biotechnology Information

NFKB1:

Nuclear factor kappa B subunit 1

OR:

Odds ratio

OXTR:

Oxytocin receptor

PON1:

Paraoxonase 1

PRL:

Prolactin

SNPs:

Single nucleotide polymorphisms

TH:

Tyrosine hydroxylase

TNF-α:

Tumor necrosis factor alpha

VIP:

Vasoactive intestinal peptide

χ2 :

Chi square

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Acknowledgments

The authors thank the participants and their families. Dr Elisa Hill-Yardin was supported by an Australian Research Council Future Fellowship FT160100126 and an RMIT University Vice Chancellor’s Senior Research Fellowship. The dataset and materials from the participants recruited for this study are available from Miss Anya Shindler.

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Author notes

  1. N. Bishop and A. E. Franks contributed equally as senior author.

Authors and Affiliations

  1. Department of Physiology, Anatomy and Microbiology, School of Life Sciences, La Trobe University, Bundoora, VIC, 3086, Australia

    A. E. Shindler, S. Petrovski, N. Bishop & A. E. Franks

  2. School of Health and Biomedical Sciences, RMIT University, Melbourne, Australia

    E. L. Hill-Yardin

  3. Centre for Future Landscape, La Trobe University, Melbourne, VIC, Australia

    A. E. Franks

  4. La Trobe University, Level 4 Reid Building, 1 Kingsbury Drive, Bundoora, VIC, 3083, Australia

    A. E. Shindler

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Contributions

AF, NB, and AS designed the research approach and analysis strategy, AS conducted the research and statistical analyses. AS, EH, SP, AF, and NB drafted the manuscript; EH, SP, AF, and NB further contributed important intellectual content and confirmed the accuracy and integrity of the work.

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Correspondence to A. E. Shindler.

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The La Trobe University Human Ethics Committee approved this study and monitored the human subject protection procedures. The number provided for this study by the human ethics committee is 15-102.

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Written and informed consent for publication was obtained from the participants in this study.

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Shindler, A.E., Hill-Yardin, E.L., Petrovski, S. et al. Towards Identifying Genetic Biomarkers for Gastrointestinal Dysfunction in Autism. J Autism Dev Disord 50, 76–86 (2020). https://doi.org/10.1007/s10803-019-04231-6

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