Vascular endothelial growth factor gene polymorphisms in Behçet's disease

Carlo Salvarani, Luigi Boiardi, Bruno Casali, Ignazio Olivieri, Fabrizio Cantini, Fabrizio Salvi, Renato Malatesta, Renato La Corte, Giovanni Triolo, Angelo Ferrante, Davide Filippini, Giuseppe Paolazzi, Piercarlo Sarzi-Puttini, Davide Nicoli, Enrico Farnetti, Qingquan Chen, Lia Pulsatelli

Research output: Contribution to journalArticlepeer-review


Objective. To evaluate potential associations of vascular endothelial growth factor (VEGF) gene polymorphisms with Behçet's disease (BD) and disease expression. Methods. Case patients were 122 consecutive Italian patients with BD followed at the Rheumatology, Ophthalmology, and Neurology Units in Bologna, Ferrara, Milano, Palermo, Potenza, Prato, Reggio Emilia, and Trento over a 3-year period (1997-99) and who satisfied the International Study Group criteria for BD. Also selected as a control group were 200 healthy age and sex matched blood donors. All patients with BD and controls were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for +936 C/T (rs3025039) and -634 C/G (rs2010963) mutations and for an 18 base pair (bp) insertion/deletion (I/D) polymorphism at -2549 of the the VEGF promoter region. In vitro release of VEGF by peripheral blood mononuclear cells (PBMC) was investigated by ELISA in healthy controls homozygous for the polymorphisms studied. Results. The carriage rates of the alleles I and -634C were significantly more frequent in patients with BD than in healthy controls [p corr = 0.036, OR 1.8 (95% CI 1.1-2.9) and p corr = 0.05, OR 1.8 (95% CI 1.1-3.0), respectively]. While the distribution of allele +936T was similar in patients with BD and healthy controls, its frequency was significantly higher in BD patients with posterior uveitis/retinal vasculitis than in those without (p = 0.022, OR 2.4, 95% CI 1.1-5.0). Lipopolysaccharide-stimulated VEGF production from PBMC of healthy subjects was higher in II homozygous than in DD homozygous. Conclusion. Our data indicate that carriers of -634C and I alleles are associated with susceptibility to developing BD.

Original languageEnglish
Pages (from-to)1785-1789
Number of pages5
JournalJournal of Rheumatology
Issue number9
Publication statusPublished - Sep 2004


  • Behçet's disease
  • Clinical manifestations
  • VEGF polymorphisms
  • VEGF production

ASJC Scopus subject areas

  • Rheumatology
  • Immunology

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