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Type: Journal article
Title: Fas gene promoter polymorphisms in primary Sjogren's syndrome
Author: Mullighan, C.
Heatley, S.
Lester, S.
Rischmueller, M.
Gordon, T.
Bardy, P.
Citation: Annals of the Rheumatic Diseases, 2004; 63(1):98-101
Publisher: British Med Journal Publ Group
Issue Date: 2004
ISSN: 0003-4967
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 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.
Keywords: Humans; Sjogren's Syndrome; Antigens, CD95; Antibodies, Antinuclear; Gene Frequency; Genotype; Polymorphism, Genetic; Promoter Regions, Genetic
RMID: 0020040082
DOI: 10.1136/ard.2003.006056
Appears in Collections:Medicine publications

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