Endothelial Nitric Oxide Synthase Gene Polymorphisms in Giant Cell Arteritis

Carlo Salvarani, Bruno Casali, Davide Nicoli, Enrico Farnetti, Pierluigi Macchioni, Maria Grazia Catanoso, Qingquan Chen, GianLuigi Bajocchi, Luigi Boiardi

Research output: Contribution to journalArticlepeer-review

Abstract

Objective. To examine potential associations of the Glu/Asp298 polymorphism in exon 7 and the 4a/b polymorphism in intron 4 of the endothelial nitric oxide synthase (eNOS) gene with susceptibility to and clinical expression of giant cell arteritis (GCA), particularly in patients with versus those without ischemic complications. Methods. Ninety-one consecutive patients with biopsy-proven GCA, who were residents of Reggio Emilia, Italy, and 133 population-based controls from the same geographic area were genotyped by polymerase chain reaction and allele-specific oligonucleotide techniques for eNOS polymorphisms in exon 7 and intron 4. The patients were separated into 2 subgroups according to the presence or absence of ischemic complications (visual loss and/or jaw claudication and/or aortic arch syndrome). Results. The distribution of the Glu/Asp298 genotype differed significantly between GCA patients and controls (corrected P [Pcorr] = 0.003). Carriers of the Asp298 allele (Asp/Asp or Glu/Asp) were significantly more frequent among the GCA patients than among the controls (Pcorr = 0.0002, odds ratio 3.3, 95% confidence interval 1.7-6.3). The distribution of the 4a/b genotype was similar in GCA patients and controls. No significant associations were found when GCA patients with and without ischemic complications were compared. Conclusion. Our findings show that the Glu/Asp298 polymorphism of the eNOS gene is associated with GCA susceptibility.

Original languageEnglish
Pages (from-to)3219-3223
Number of pages5
JournalArthritis and Rheumatism
Volume48
Issue number11
DOIs
Publication statusPublished - Nov 2003

ASJC Scopus subject areas

  • Immunology
  • Rheumatology

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