Fas gene promoter polymorphisms in primary Sjögren's syndrome
C G Mullighan1, S Heatley, S Lester
1Haematology, Institute of Medical and Veterinary Science, Adelaide, Australia. cmull@senet.com.au
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 PCR-SSP 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.
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