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Associations between autistic-like traits and polymorphisms in NFKBIL1

Journal article
Authors Nina Strenn
Daniel Hovey
Lina Jonsson
Henrik Anckarsäter
Sebastian Lundström
P. Lichtenstein
Agneta Ekman
Published in Acta Neuropsychiatrica
Volume 31
Issue 4
Pages 220-229
ISSN 0924-2708
Publication year 2019
Published at Institute of Neuroscience and Physiology
Gillberg Neuropsychiatry Centre
Centre for Ethics, Law, and Mental Health
Pages 220-229
Language en
Keywords autistic disorders, immune system, polymorphism, single nucleotide
Subject categories Neurosciences


Objective:The immune system has been suggested to be associated with neuropsychiatric disorders; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NF-κB) have been reported in individuals with autism spectrum disorder (ASD). The aim of this study was to investigate possible associations between autistic-like traits (ALTs) and single nucleotide polymorphisms (SNPs) in NFKB1 (encoding a subunit of the NF-κB protein complex) and NF-κB inhibitor-like protein 1 (NFKBIL1).Methods:The study was conducted in a cohort from the general population: The Child and Adolescent Twin Study in Sweden (CATSS, n = 12 319, 9-12 years old). The subjects were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory. Five SNPs within the two genes were genotyped (NFKBIL1: rs2857605, rs2239707, rs2230365 and rs2071592; NFKB1: rs4648022).Results:We found significant associations for two SNPs in NFKBIL1: rs2239707 showed a significant distribution of genotype frequencies in the case-control analysis both for all individuals combined and in boys only, and rs2230365 was significantly associated with the ALTs-module language impairment in boys only. Furthermore, we found nominal association in the case-control study for rs2230365, replicating earlier association between this SNP and ASD in an independent genome-wide association study.Conclusion:The shown associations between polymorphisms in NFKBIL1 and ALTs are supporting an influence of the immune system on neuropsychiatric symptoms. © Scandinavian College of Neuropsychopharmacology 2019.

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