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Published on: October 13, 2023
Association between autoimmune disease and neurodevelopmental disorder: a Mendelian randomization analysis
Jiangwei Qin1, Yunfan Zhang1, Ruolan Hu1
1Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE, Department of Pediatrics, West China Second University Hospital, Sichuan University, 20 3rd Section, Renmin S.Rd., Chengdu, 610041, Sichuan, China.
This study found no direct link between autoimmune diseases and neurodevelopmental disorders like ADHD, ASD, and schizophrenia. However, specific pro-inflammatory factors were identified as potentially involved in these conditions.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Neurodevelopmental disorders, including ADHD, ASD, and schizophrenia, are increasingly prevalent.
- Previous research suggests a link between autoimmune disease inflammation and neurological conditions, though this association is debated.
- This study investigates the relationship between autoimmune diseases and neurodevelopmental disorders using Mendelian randomization.
Purpose of the Study:
- To clarify the association between inflammatory activities from autoimmune diseases and neurodevelopmental disorders.
- To identify potential pro-inflammatory mediators involved in ADHD, ASD, and schizophrenia.
- To explore shared pathways and genetic links between autoimmune and neurodevelopmental conditions.
Main Methods:
- Mendelian randomization (MR) analysis was employed using systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and type 1 diabetes mellitus (T1D) as proxies for autoimmune diseases.
- Bidirectional MR analysis was performed to identify signaling peptides, proteins, or receptors causally linked to diseases.
- Gene loci were compared with data from the TWAS-hub site, alongside Gene Ontology (GO) and KEGG pathway enrichment analyses.
Main Results:
- No significant association was found between autoimmune diseases and neurodevelopmental disorders in the MR analysis.
- However, 20-45 clinically significant pro-inflammatory mediators, such as semaphorin 3 and IL-27 receptor subunit alpha, were identified in ADHD, ASD, and schizophrenia.
- GO and KEGG analyses revealed distinct pathway integrities for each neurodevelopmental disease, with no shared pathway linking them to autoimmune conditions. TWAS analysis suggested CHRNA5 may mediate inflammatory activities in schizophrenia.
Conclusions:
- The study failed to establish a direct association between autoimmune diseases and neurodevelopmental disorders.
- Nevertheless, the research highlights the involvement of specific pro-inflammatory factors in the pathogenesis of neurodevelopmental disorders.
- Further investigation into these identified mediators may offer new therapeutic targets.
