Fas gene promoter polymorphisms in primary Sjögren's syndrome. Issue 1 (12th December 2003)

• Record Type: Journal Article
• Authors: Mullighan, C G; Heatley, S; Lester, S; Rischmueller, M; Gordon, T P; Bardy, P G
• Is Part Of: Annals of the rheumatic diseases. Volume 63:Issue 1(2004)
• Page Start: 98
• Page End: 101
• Publication Date: 2003-12-12
• Subjects: Sjögren's syndrome -- Fas -- polymorphism -- apoptosis; CIE, counterimmunoelectrophoresis -- ELISA, enzyme linked immunosorbent assay -- pSS, primary Sjögren's syndrome; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/ard.2003.006056
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Background: Fas mediated apoptosis may be important in the pathogenesis of primary Sjögren's syndrome (pSS). Objective: To examine genetic variation in the promoter region of the Fas gene in pSS. Methods: Two single nucleotide polymorphisms at positions −1377(G/A) and −670(G/A) in the Fas gene promoter were genotyped by PCR­SSP in 101 patients with pSS and 108 Caucasoid controls. Results: No significant differences in allele or genotype frequencies were detected between the patients with pSS and controls. However, significant associations were observed with Ro/La autoantibody negative patients, who display milder and later onset disease. The −670A allele was more frequent in Ro/La autoantibody negative patients than in Ro/La autoantibody positive patients (p = 0.04). Conclusion: This study does not confirm an earlier report of an association between pSS and the Fas promoter −670G allele. However, the results suggest that genetically determined variability in Fas expression may modulate Ro/La autoantibody responses in patients with pSS.