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Associations between autistic-like traits and polymorphisms in NFKBIL1.

Nina Strenn1, Daniel Hovey1, Lina Jonsson1

  • 1Institute of Neuroscience and Physiology, The Sahlgrenska Academy,University of Gothenburg,Gothenburg,Sweden.

Acta Neuropsychiatrica
|June 5, 2019
PubMed
Summary

Genetic variations in the NFKBIL1 gene are linked to autistic-like traits (ALTs), suggesting immune system involvement in neuropsychiatric conditions. This study analyzed single nucleotide polymorphisms (SNPs) in NFKBIL1 and NFKB1 genes in a large child and adolescent cohort.

Keywords:
autistic disordersimmune systempolymorphismsingle nucleotide

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Area of Science:

  • Neuroimmunology
  • Genetics
  • Psychiatry

Background:

  • The immune system, including cytokines and nuclear factor kappa-B (NF-κB), is implicated in neuropsychiatric disorders like autism spectrum disorder (ASD).
  • Previous research noted elevated NF-κB levels in individuals with ASD.

Purpose of the Study:

  • To investigate the association between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in the NFKB1 and NFKBIL1 genes.
  • To explore the role of immune system pathways in the development of neuropsychiatric symptoms.

Main Methods:

  • A population-based cohort, the Child and Adolescent Twin Study in Sweden (CATSS), comprising 12,319 individuals aged 9-12 years, was utilized.
  • Autistic-like traits were assessed using the Autism-Tics, ADHD, and Other Comorbidities Inventory.
  • Five SNPs in NFKBIL1 (rs2857605, rs2239707, rs2230365, rs2071592) and NFKB1 (rs4648022) were genotyped.

Main Results:

  • Significant associations were found between two NFKBIL1 SNPs and ALTs.
  • SNP rs2239707 showed significant genotype frequency distribution in case-control analyses for both boys and the overall cohort.
  • SNP rs2230365 was significantly associated with language impairment in boys and showed a nominal association in case-control studies, replicating prior ASD-related findings.

Conclusions:

  • The identified associations between NFKBIL1 polymorphisms and ALTs support the hypothesis of immune system influence on neuropsychiatric symptoms.
  • These findings contribute to understanding the genetic underpinnings of neurodevelopmental disorders.
  • Further research into immune-related genetic factors in neuropsychiatric conditions is warranted.