Association between IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia

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Abstract

It has been established that cytokines play a critical role in the regulation of the CNS and recent studies have suggested that dysfunctions of both pro-inflammatory (IL-1β, IL-6, and TNF-α) and anti-inflammatory (IL-1RA and IL-10) cytokines could be involved in the pathophysiology of schizophrenia. Previous studies have reported that functional polymorphisms in some cytokines genes may have important regulatory effects on such system. Therefore, the aim of the present study was to explore the possible role of the IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms in schizophrenia. A case control association study comparing genotype and allele frequencies in 346 northen Italian subjects (169 schizophrenic patients and 177 unrelated healthy volunteers) was performed. The frequencies of IL-1β -511C and IL-1RA allele 1 (86bp)4 are significantly higher in schizophrenic patients compared to controls (IL-1β -511 P=0.047; IL-1RA (86bp)n P=0.002). Moreover our data show a protective effect of the IL-1RA allele 2 (86bp)2 against schizophrenia (OR=0.59 95%CI:0.388-0.910; P=0.016) and this effect is enhanced by the concomitant presence of IL-1β -511T (OR=0.48 95%CI:0.30-0.76; P=0.002). Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.

Original languageEnglish
Pages (from-to)457-462
Number of pages6
JournalJournal of Psychiatric Research
Volume37
Issue number6
DOIs
Publication statusPublished - Nov 2003

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Interleukin-1
Schizophrenia
Cytokines
Alleles
Disease Susceptibility
Multigene Family
Gene Frequency
Interleukin-10
Case-Control Studies
Interleukin-6
Healthy Volunteers
Anti-Inflammatory Agents
Genotype
Genes

Keywords

  • Association study
  • Cytokine
  • Gene
  • Interleukin-1 (IL-1)
  • Polymorphism
  • Schizophrenia

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry
  • Psychology(all)

Cite this

@article{11e4f348113f4878984de619fa5afa8d,
title = "Association between IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia",
abstract = "It has been established that cytokines play a critical role in the regulation of the CNS and recent studies have suggested that dysfunctions of both pro-inflammatory (IL-1β, IL-6, and TNF-α) and anti-inflammatory (IL-1RA and IL-10) cytokines could be involved in the pathophysiology of schizophrenia. Previous studies have reported that functional polymorphisms in some cytokines genes may have important regulatory effects on such system. Therefore, the aim of the present study was to explore the possible role of the IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms in schizophrenia. A case control association study comparing genotype and allele frequencies in 346 northen Italian subjects (169 schizophrenic patients and 177 unrelated healthy volunteers) was performed. The frequencies of IL-1β -511C and IL-1RA allele 1 (86bp)4 are significantly higher in schizophrenic patients compared to controls (IL-1β -511 P=0.047; IL-1RA (86bp)n P=0.002). Moreover our data show a protective effect of the IL-1RA allele 2 (86bp)2 against schizophrenia (OR=0.59 95{\%}CI:0.388-0.910; P=0.016) and this effect is enhanced by the concomitant presence of IL-1β -511T (OR=0.48 95{\%}CI:0.30-0.76; P=0.002). Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.",
keywords = "Association study, Cytokine, Gene, Interleukin-1 (IL-1), Polymorphism, Schizophrenia",
author = "Roberta Zanardini and Luisella Bocchio-Chiavetto and Catia Scassellati and Cristian Bonvicini and Tura, {Gian Battista} and Giuseppe Rossi and Jorge Perez and Massimo Gennarelli",
year = "2003",
month = "11",
doi = "10.1016/S0022-3956(03)00072-4",
language = "English",
volume = "37",
pages = "457--462",
journal = "Journal of Psychiatric Research",
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TY - JOUR

T1 - Association between IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms and schizophrenia

AU - Zanardini, Roberta

AU - Bocchio-Chiavetto, Luisella

AU - Scassellati, Catia

AU - Bonvicini, Cristian

AU - Tura, Gian Battista

AU - Rossi, Giuseppe

AU - Perez, Jorge

AU - Gennarelli, Massimo

PY - 2003/11

Y1 - 2003/11

N2 - It has been established that cytokines play a critical role in the regulation of the CNS and recent studies have suggested that dysfunctions of both pro-inflammatory (IL-1β, IL-6, and TNF-α) and anti-inflammatory (IL-1RA and IL-10) cytokines could be involved in the pathophysiology of schizophrenia. Previous studies have reported that functional polymorphisms in some cytokines genes may have important regulatory effects on such system. Therefore, the aim of the present study was to explore the possible role of the IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms in schizophrenia. A case control association study comparing genotype and allele frequencies in 346 northen Italian subjects (169 schizophrenic patients and 177 unrelated healthy volunteers) was performed. The frequencies of IL-1β -511C and IL-1RA allele 1 (86bp)4 are significantly higher in schizophrenic patients compared to controls (IL-1β -511 P=0.047; IL-1RA (86bp)n P=0.002). Moreover our data show a protective effect of the IL-1RA allele 2 (86bp)2 against schizophrenia (OR=0.59 95%CI:0.388-0.910; P=0.016) and this effect is enhanced by the concomitant presence of IL-1β -511T (OR=0.48 95%CI:0.30-0.76; P=0.002). Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.

AB - It has been established that cytokines play a critical role in the regulation of the CNS and recent studies have suggested that dysfunctions of both pro-inflammatory (IL-1β, IL-6, and TNF-α) and anti-inflammatory (IL-1RA and IL-10) cytokines could be involved in the pathophysiology of schizophrenia. Previous studies have reported that functional polymorphisms in some cytokines genes may have important regulatory effects on such system. Therefore, the aim of the present study was to explore the possible role of the IL-1β -511C/T and IL-1RA (86bp)n repeats polymorphisms in schizophrenia. A case control association study comparing genotype and allele frequencies in 346 northen Italian subjects (169 schizophrenic patients and 177 unrelated healthy volunteers) was performed. The frequencies of IL-1β -511C and IL-1RA allele 1 (86bp)4 are significantly higher in schizophrenic patients compared to controls (IL-1β -511 P=0.047; IL-1RA (86bp)n P=0.002). Moreover our data show a protective effect of the IL-1RA allele 2 (86bp)2 against schizophrenia (OR=0.59 95%CI:0.388-0.910; P=0.016) and this effect is enhanced by the concomitant presence of IL-1β -511T (OR=0.48 95%CI:0.30-0.76; P=0.002). Our findings support the hypothesis that genetically determined changes in IL-1 metabolism regulation may contribute to the pathogenesis of schizophrenia confirming a role of IL-1 gene cluster in disease susceptibility.

KW - Association study

KW - Cytokine

KW - Gene

KW - Interleukin-1 (IL-1)

KW - Polymorphism

KW - Schizophrenia

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U2 - 10.1016/S0022-3956(03)00072-4

DO - 10.1016/S0022-3956(03)00072-4

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C2 - 14563376

AN - SCOPUS:0141955231

VL - 37

SP - 457

EP - 462

JO - Journal of Psychiatric Research

JF - Journal of Psychiatric Research

SN - 0022-3956

IS - 6

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