Fas gene promoter polymorphisms in primary Sjögren's syndrome.
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).


CONCLUSIONS
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.
Mullighan
C G
CG
Haematology, Institute of Medical and Veterinary Science, Adelaide, Australia. cmull@senet.com.au
Heatley
S
S
Lester
S
S
Rischmueller
M
M
Gordon
T P
TP
Bardy
P G
PG
D000974:Antibodies, Antinuclear / Q000097:blood; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000235:genetics* / Q000276:immunology; D019014:fas Receptor / Q000235:genetics*
D000974:Antibodies, Antinuclear; C035356:SS-A antibodies; C035357:SS-B antibodies; D019014:fas Receptor