Interleukin-1 gene complex polymorphisms in systemic sclerosis patients with severe restrictive lung physiology

Hum Immunol. 2007 Jul;68(7):603-9. doi: 10.1016/j.humimm.2007.03.005. Epub 2007 Apr 5.

Abstract

Increased concentrations of interleukin-1 (IL-1) were observed in bronchoalveolar lavage fluids from patients with systemic sclerosis (SSc), and their levels were correlated with the patients' forced vital capacity (FVC). Because IL-1 production is regulated at the genetic level, we hypothesized that IL-1 gene complex single nucleotide polymorphisms (SNPs) might be relevant to the progression of ventilatory restriction in SSc. Two-hundred four Italian SSc patients were genotyped for the following IL-1 gene complex SNPs: IL-1alpha C-889T, IL-1beta C+3962T, IL-1beta C-511T, IL-1R Cpst1970T, and IL-1Ra Cmspal11100T, as well as for the following SNPs of cytokines with regulatory functions on IL-1 production: IFNgamma AUTR5644T, TNFalpha A-308G, and IL-10 A-1082G. The SNPs were inserted in a Cox regression model with disease subset, gender, autoantibodies, age at onset of disease, and prior use of immunosoppresants as covariates and the presence of FVC<55% of predicted values as outcome measure; p values were corrected for the number of pairwise comparisons. Twenty-five patients (12.3%) developed a severe ventilatory restriction after 6.8+/-6.6 years (mean+/-standard deviation) from diagnosis. In our model, the relative risk to develop a severe ventilatory restriction was increased by the antitopoisomerase I antibody (p=0.01; HR=14.67, CI95=1.87-114.92), the dcSSc subset (p=0.007; HR=3.14, CI95=1.36-7.21) and the IL-1beta C+3962T SNP (p=0.003 TT vs CC; HR=6.61, CI95=2.28-19.15). The IL-1beta C+3962T SNP is associated with the presence of severe restrictive lung physiology in Italian SSc patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bronchoalveolar Lavage Fluid / immunology
  • Case-Control Studies
  • Cytokines / immunology
  • Cytokines / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Interleukin-1alpha / genetics*
  • Interleukin-1alpha / immunology
  • Interleukin-1beta / genetics*
  • Interleukin-1beta / immunology
  • Italy
  • Lung Diseases, Obstructive / genetics*
  • Lung Diseases, Obstructive / immunology
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Regression Analysis
  • Scleroderma, Systemic / genetics*
  • Scleroderma, Systemic / immunology

Substances

  • Cytokines
  • Interleukin-1alpha
  • Interleukin-1beta