Open AccessEndothelial nitric oxide synthase gene polymorphisms in giant cell arteritis
Author(s) -
Salvarani Carlo,
Casali Bruno,
Nicoli Davide,
Farnetti Enrico,
Macchioni Pierluigi,
Catanoso Maria Grazia,
Chen Qingquan,
Bajocchi Gianluigi,
Boiardi Luigi
Publication year - 2003
Publication title -
arthritis & rheumatism
Language(s) - English
Resource type - Journals
eISSN - 1529-0131
pISSN - 0004-3591
DOI - 10.1002/art.11307
Subject(s) - giant cell arteritis , enos , genotype , odds ratio , biology , allele , medicine , haplotype , exon , population , gastroenterology , nitric oxide synthase , pathology , genetics , endocrinology , nitric oxide , vasculitis , gene , disease , environmental health
Objective To examine potential associations of the Glu/Asp 298 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/Asp 298 genotype differed significantly between GCA patients and controls (corrected P [ P corr ] = 0.003). Carriers of the Asp 298 allele (Asp/Asp or Glu/Asp) were significantly more frequent among the GCA patients than among the controls ( P corr = 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/Asp 298 polymorphism of the eNOS gene is associated with GCA susceptibility.