Associations between NFKB and NFKBIL1 polymorphisms and autistic-like traits in a Swedish population of twins

• Objectives Autism spectrum disorders are a complex group of neurodevelopmental disorders which are characterized by impairments in social interactions and both verbal and nonverbal communication. The immune system has been suggested to be of importance for the development of neuropsychiatric symptoms; for example, elevated levels of cytokines and the inflammation-related transcription factor nuclear factor kappa-B (NFKB) have been reported in autistic individuals. The aim of this study was to investigate possible associations between single nucleotide polymorphisms (SNPs) in NFKB and NFKB inhibitor-like protein 1 (NFKBIL1) and autistic-like traits in a Swedish population of twins. Methods The subjects in this study (n=12426, 9-12 years old) are from “The Child and Adolescent Twin Study in Sweden” (CATSS). Their parents participated in a telephone interview where the children were assessed by the Autism-Tics, ADHD, and Other Comorbidities Inventory (A-TAC) where autistic-like traits are measured using a continuous scale. DNA was extracted from saliva samples and polymorphisms were genotyped. Statistical analyses were performed in the SAS 9.3 (SAS Institute, Inc., Cary, NC) softwear. Results Four out of the five investigated SNPs (NFKB: rs4648022; NFKBIL1: rs2230365, 2239797 and rs2857605) showed significant associations with the A-TAC total autistic-like traits score. Conclusions To our best knowledge, polymorphisms in the genes encoding NFKB and NFKBIL1 have not been studied previously in relation to autism. These proteins may be involved in neuronal development and our findings support the hypothesis of the immune system being important in the aetiology of neuropsychiatric symptoms.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Neurosciences (hsv//eng)

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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