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The FAS/cd95 promoter single-nucleotide polymorphism -670 A/G and lupus erythematosus
S Molin1, E H Weiss, T Ruzicka
1Department of Dermatology and Allergology, Ludwig Maximilian University Munich, Munich, Germany. sonja.molin@med.uni-muenchen.de
Clinical and Experimental Dermatology
|February 4, 2012
Summary
Increased apoptosis may contribute to lupus erythematosus (LE) development. A specific gene variant (FAS -670 A/G) showed a trend towards association with LE, suggesting FAS gene function is relevant in this autoimmune disease.
Area of Science:
- Immunology
- Genetics
Background:
- Elevated circulating nuclear antigens from apoptosis are implicated in autoantibody production in lupus erythematosus (LE).
- The role of a single-nucleotide polymorphism in the FAS gene promoter (-670 A/G) on LE susceptibility is debated.
- This polymorphism has been linked to various autoimmune diseases, including LE.
Purpose of the Study:
- To investigate the association between the FAS -670 A/G polymorphism and systemic lupus erythematosus (SLE) in a German cohort.
- To explore the potential contribution of apoptosis and FAS gene function to the pathogenesis of LE.
Main Methods:
- Genotyping of the FAS -670 A/G polymorphism in 107 German patients with LE.
- Comparison of genotype frequencies between LE patients and 96 healthy controls.
Main Results:
- A trend for association was observed between LE and the homozygous A genotype at the FAS -670 position.
- No definitive allele or genotype was assigned to control FAS expression.
Conclusions:
- Apoptosis may play a role in the development of autoimmune reactions in LE.
- FAS gene function could be relevant to the pathogenesis of lupus erythematosus.
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