Endothelial nitric oxide synthase haplotype associations in biopsy-proven giant cell arteritis.
OBJECTIVE
To assess the influence of endothelial nitric oxide synthase (eNOS) polymorphisms in the susceptibility to giant cell arteritis (GCA).


METHODS
We studied 57 patients with biopsy-proven GCA diagnosed at the Rheumatology Division of Hospital Xeral-Calde and 117 ethnically matched controls. Patients and controls were genotyped by PCR for a variable number tandem repeat polymorphism in intron 4, a T/C polymorphism at position -786 in the promoter region, and a polymorphism in exon 7 (298Glu/Asp or 5557G/T) of the eNOS gene.


RESULTS
No differences in allele or genotype frequencies for individual polymorphisms were observed between patients with GCA and controls. However, when haplotype frequencies for the combination of the 3 eNOS polymorphisms were estimated, a significant increase in the frequency of haplotype C/1/T and a significant decrease in the frequency of haplotype C/1/G were observed in GCA patients compared to controls (p = 0.04, OR 1.8, 95% CI 1.0-3.3; p = 0.02, OR 0.3, 95% CI 0.1-0.8, respectively).


CONCLUSIONS
Significant differences in eNOS haplotype frequencies between GCA patients and controls may indicate a role for these polymorphisms in the susceptibility to this condition.
Amoli
Mahsa M
MM
Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK.
Garcia-Porrua
Carlos
C
Llorca
Javier
J
Ollier
William E R
WE
Gonzalez-Gay
Miguel A
MA
D001483:Base Sequence; D001707:Biopsy, Needle; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004198:Disease Susceptibility; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D013700:Giant Cell Arteritis / Q000235:genetics* / Q000473:pathology*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D019001:Nitric Oxide Synthase / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012016:Reference Values; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index
D019001:Nitric Oxide Synthase