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Endothelial Nitric Oxide Synthase Haplotype Associations in Biopsy-Proven Giant Cell Arteritis

MAHSA M. AMOLI, CARLOS GARCIA-PORRUA, JAVIER LLORCA, WILLIAM E.R. OLLIER, and MIGUEL A. GONZALEZ-GAY

ABSTRACT.

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).

Conclusion. Significant differences in eNOS haplotype frequencies between GCA patients and controls may indicate a role for these polymorphisms in the susceptibility to this condition. (J Rheumatol 2003;30:2019-22)

Key Indexing Terms:

GIANT CELL ARTERITIS
ENOS POLYMORPHISM
DISEASE SUSCEPTIBILITY
HAPLOTYPE ASSOCIATIONS


From the Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, University of Manchester, Manchester, United Kingdom; Division of Rheumatology, Hospital Xeral-Calde, Lugo, Spain; and Division of Preventive Medicine and Public Health, School of Medicine, University of Cantabria, Santander, Spain.

M.M. Amoli MD; W.E.R. Ollier, PhD, FRCPath, Centre for Integrated Genomic Medical Research, University of Manchester; M.A. Gonzalez-Gay, MD, PhD; C. Garcia-Porrua, MD, PhD, Rheumatology Division, Hospital Xeral-Calde; J. Llorca, MD, PhD, School of Medicine, University of Cantabria.

Address reprint requests to Dr. M.A. Gonzalez-Gay, Rheumatology Division, Hospital Xeral-Calde, c/ Dr. Ochoa s/n, 27004 Lugo, Spain.

Submitted October 9, 2002; revision accepted January 23, 2003.




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