RT Journal Article
SR Electronic
T1 Fas gene promoter polymorphisms in primary Sjögren’s syndrome
JF Annals of the Rheumatic Diseases
JO Ann Rheum Dis
FD BMJ Publishing Group Ltd and European League Against Rheumatism
SP 98
OP 101
DO 10.1136/ard.2003.006056
VO 63
IS 1
A1 C G Mullighan
A1 S Heatley
A1 S Lester
A1 M Rischmueller
A1 T P Gordon
A1 P G Bardy
YR 2004
UL http://ard.bmj.com/content/63/1/98.abstract
AB 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.