Immunogenetics of autism spectrum disorder: A systematic literature review.

Journal

Brain, behavior, and immunity
ISSN: 1090-2139
Titre abrégé: Brain Behav Immun
Pays: Netherlands
ID NLM: 8800478

Informations de publication

Date de publication:
Nov 2023
Historique:
received: 07 02 2023
revised: 11 09 2023
accepted: 13 09 2023
pubmed: 18 9 2023
medline: 18 9 2023
entrez: 17 9 2023
Statut: ppublish

Résumé

The aetiology of autism spectrum disorder (ASD) is complex and, partly, accounted by genetic factors. Nonetheless, the genetic underpinnings of ASD are poorly defined. The presence of immune dysregulations in autistic individuals, and their families, supports a role of the immune system and its genetic regulators. Albeit immune responses belong either to the innate or adaptive arms, the overall immune system genetics is broad, and encompasses a multitude of functionally heterogenous pathways which may have different influences on ASD. Hence, to gain insights on the immunogenetic underpinnings of ASD, we conducted a systematic literature review of previous immune genetic and transcription studies in ASD. We defined a list of immune genes relevant to ASD and explored their neuro-immune function. Our review confirms the presence of immunogenetic variability in ASD, accounted by inherited variations of innate and adaptive immune system genes and genetic expression changes in the blood and post-mortem brain of autistic individuals. Besides their immune function, the identified genes control neurodevelopment processes (neuronal and synaptic plasticity) and are highly expressed in pre/peri-natal periods. Hence, our synthesis bolsters the hypothesis that perturbation in immune genes may contribute to ASD by derailing the typical trajectory of neurodevelopment. Our review also helped identifying some of the limitations of prior immunogenetic research in ASD. Thus, alongside clarifying the neurodevelopment role of immune genes, we outline key considerations for future work into the aetiology of ASD and possible novel intervention targets.

Identifiants

DOI: 10.1016/j.bbi.2023.09.010 PMID: 37717669
pubmed: 37717669
pii: S0889-1591(23)00274-X
doi: 10.1016/j.bbi.2023.09.010
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

488-499

Informations de copyright

Crown Copyright © 2023. Published by Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Martina Arenella (M)

Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute of Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands. Electronic address: martina.arenella@kcl.ac.uk.

Rugile Matuleviciute (R)

Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; MRC Centre for Neurodevelopmental Disorders, King's College London, London, United Kingdom.

Ryad Tamouza (R)

University Paris Est Créteil (UPEC), INSERM, IMRB, Translational Neuropsychiatry Lab, AP-HP, Department of Addiction and Psychiatry (DMU IMPACT, FHU ADAPT), France; Fondation FondaMental, F-94010 Créteil, France.

Marion Leboyer (M)

University Paris Est Créteil (UPEC), INSERM, IMRB, Translational Neuropsychiatry Lab, AP-HP, Department of Addiction and Psychiatry (DMU IMPACT, FHU ADAPT), France; Fondation FondaMental, F-94010 Créteil, France.

Grainne McAlonan (G)

Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; South London and Maudsley NHS Foundation Trust, London, United Kingdom.

Janita Bralten (J)

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute of Brain, Cognition and Behavior, Radboud University, Nijmegen, The Netherlands.

Declan Murphy (D)

Department of Forensic and Neurodevelopmental Science, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom; South London and Maudsley NHS Foundation Trust, London, United Kingdom.

Classifications MeSH