-238 and +489 TNF-α along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis

Barbara Tolusso, Martina Fabris, Roberto Caporali, Giovanna Cuomo, Miriam Isola, Franca Soldano, Carlomaurizio Montecucco, Gabriele Valentini, Gianfranco Ferraccioli

Research output: Contribution to journalArticle

Abstract

To investigate possible associations of TNF-α and TNF-RII gene polymorphisms with diffuse or limited skin involvement phenotype in a cohort of Systemic Sclerosis (SSc) patients.: One-hundred and fourteen consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets, and 170 healthy blood donors (HBDs) were included in the study. The extracted DNA was genotyped for the following polymorphisms: TNF-α (-238, +489) and TNF-RII (+196), using the polymerase chain reaction (PCR) and the restriction enzymes BamHI, HpyCH4 IV and NlaIII, respectively.: The AG/AA (presence of allele A) genotypes in position -238 and the AG genotype in position +489 of the TNF-α gene were found significantly increased in SSc, as a whole, when compared with healthy blood donors (χν=22=4.48, p = 0.03 for -238 and χν=22=7.82, p = 0.02 for +489, respectively). The rare GG genotype in exon 6 (codon 196) of the TNF-RII gene was also found increased in SSc compared to HBDs, even though the difference did not show statistical significance (χν=22=3.56, p = 0.17). The strength of the association was mainly due to the dcSSc phenotype (Fisher test, p = 0.04 for -238, χν=22=10.07, p <0.01 for +489 and χν=22=6.25, p = 0.04 for the +196 TNF-RII, respectively).: TNF-α and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.

Original languageEnglish
Pages (from-to)103-108
Number of pages6
JournalImmunology Letters
Volume96
Issue number1
DOIs
Publication statusPublished - Jan 15 2005

Keywords

  • Diffuse
  • Limited
  • Polymorphisms
  • SSc
  • TNF-α
  • TNF-RII

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy

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