Polymorphism of interleukin-1β and interleukin-1 receptor antagonist genes in children with autism spectrum disorders
| Autor: | Mohamed Gamil M. Abo-Elela, Eman Fathallah Gad, Khaled Saad, Dalia A Nigm, Alameldin M. Abdallah, Yasser M. Elserogy, Abdulrahman A. Al-Atram, Amira A. El-Houfey, Yasser F. Abdel-Raheem, Eman M. Nagiub Abdelsalam, Thamer A.M. Alruwaili, Ahmed A. Abdelrahman |
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| Rok vydání: | 2020 |
| Předmět: |
Male
Genotype Autism Spectrum Disorder Interleukin-1beta Single-nucleotide polymorphism behavioral disciplines and activities Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Polymorphism (computer science) mental disorders medicine Humans Allele Child Promoter Regions Genetic Biological Psychiatry Alleles Pharmacology Polymorphism Genetic business.industry DNA medicine.disease 030227 psychiatry Interleukin 1 Receptor Antagonist Protein Interleukin 1 receptor antagonist Autism spectrum disorder Case-Control Studies Child Preschool Immunology Autism Female Gene polymorphism business |
| Zdroj: | Progress in neuro-psychopharmacologybiological psychiatry. 103 |
| ISSN: | 1878-4216 |
| Popis: | In this study, we first investigated interleukin-1 beta (IL-1β) and IL-1 receptor antagonist (IL-1RA) levels in a cohort of Egyptian children with autism spectrum disorder (ASD) and in healthy controls. Second, we examined the single-nucleotide polymorphisms (SNPs) at positions −31 and − 511 of the IL-1β gene promoter and IL1RA and assessed the association between IL1B and IL1RA polymorphisms with ASD. We examined IL1β promoter polymorphism at −511 (IL-1β-511) and − 31 (IL-1β-31) and IL1RA gene polymorphism in 80 children with ASD and 60 healthy children. The children with ASD had significantly higher levels of IL-1β and IL-1RA than the controls. The children with ASD also had significantly higher frequencies of homozygous (CC) and heterozygous (TC) genotype variants of IL-1β-511, and IL-1RA than the controls. Moreover, the frequency of the IL-1β-511 allele (C) was higher in the ASD group than in the controls (p = .001). The homozygous and heterozygous variants of IL-1RA allele II were also significantly higher in the ASD group than in the control group. There was no significant association between the IL-1β-31 genotype and autism classes. However, there were significant differences in the distribution of the IL-1RA heterogeneous genotype and allele II among children with severe autism. The inflammatory role of cytokines has been implicated in a variety of neuropsychiatric pathologies, including autism. Our data show alterations in the IL-1β system, with abnormally increased serum levels of IL-1β and IL-1RA in the children with ASD. Further, polymorphisms in the IL-1β-511 and IL-1RA genotype variants correlated positively with autism severity and behavioral abnormalities. IL-1β-511 and IL-1RA gene polymorphisms could impact ASD risk and may be used as potential biomarkers of ASD. Variations in the IL-1β and IL-1RA systems may have a role in the pathophysiology of ASD. |
| Databáze: | OpenAIRE |
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