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Fas gene promoter polymorphisms in primary Sjögren’s syndrome
  1. C G Mullighan1,
  2. S Heatley2,
  3. S Lester3,
  4. M Rischmueller3,
  5. T P Gordon4,
  6. P G Bardy1
  1. 1Haematology, Institute of Medical and Veterinary Science, Adelaide, Australia
  2. 2Research and Development, Australian Red Cross Blood Service, Adelaide, Australia
  3. 3Department of Rheumatology, The Queen Elizabeth Hospital, Woodville, Australia
  4. 4Department of Immunology, Allergy and Arthritis, Flinders Medical Centre, Bedford Park, Australia
  1. Correspondence to:
    Dr C G Mullighan
    Department of Haematology, Institute of Medical and Veterinary Science, PO Box 14, Rundle Mall, SA, 5000, Australia;


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.

  • Sjögren’s syndrome
  • Fas
  • polymorphism
  • apoptosis
  • CIE, counterimmunoelectrophoresis
  • ELISA, enzyme linked immunosorbent assay
  • pSS, primary Sjögren’s syndrome
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  • Support and financial interests: none.

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