title: Involvement of IL-6 and IL-1 receptor antagonist on intellectual disability.
abstract: Imbalances in the regulation of pro-inflammatory cytokines have been increasingly correlated with several neurodevelopmental disorders and their role in neuronal development is being investigated. To assess the possible influence of cytokines on the onset of intellectual disability (ID), we studied the polymorphisms of thirteen proinflammatory cytokine genes in 81 patients and 61 healthy controls. We demonstrated a significant association of interleukin-6 (IL-6) single-nucleotide polymorphism (SNP) (-174 G/C and nt565 G/A), and interleukin-1 receptor antagonist (IL-1RA) (Mspa-I 11100) SNP with ID. Moreover, the IL-6 SNPs is an unfavorable genetic predisposition for females. The evaluation of circulating levels of IL-6 and IL-1RA showed that the serum concentrations of IL-6 were significantly higher in ID patients than in controls. These data suggest that functional cytokine gene polymorphisms may influence the development of ID.
authors.affiliation: Institute of Translational Pharmacology (IFT) - National Council of Research (CNR), L'Aquila, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Aureli
authors.affiliation: Institute of Translational Pharmacology (IFT) - National Council of Research (CNR), L'Aquila, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Sebastiani
authors.affiliation: Institute of Translational Pharmacology (IFT) - National Council of Research (CNR), L'Aquila, Italy.
authors.forename: T
authors.initials: T
authors.lastname: Del Beato
authors.affiliation: Childhood and Adolescence Neuropsychiatric Clinic, University of L'Aquila, ASL n. 4, L'Aquila, Italy.
authors.forename: A E
authors.initials: AE
authors.lastname: Marimpietri
authors.affiliation: Childhood and Adolescence Neuropsychiatric Clinic, University of L'Aquila, ASL n. 4, L'Aquila, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Graziani
authors.affiliation: Childhood and Adolescence Neuropsychiatric Clinic, University of L'Aquila, ASL n. 4, L'Aquila, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Sechi
authors.affiliation: Institute of Translational Pharmacology (IFT) - National Council of Research (CNR), L'Aquila, Italy. Electronic address: silvia.diloreto@cnr.it.
authors.forename: S
authors.initials: S
authors.lastname: Di Loreto
mesh_terms: D000293:Adolescent; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D016207:Cytokines / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D053590:Interleukin 1 Receptor Antagonist Protein / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D015850:Interleukin-6 / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D016207:Cytokines; D053590:Interleukin 1 Receptor Antagonist Protein; D015850:Interleukin-6
keywords: Cytokine; IL-1RA; IL-6; Intellectual disability; Polymorphism