The FAS/cd95 promoter single-nucleotide polymorphism -670 A/G and lupus erythematosus.
An increased level of circulating nuclear antigens caused by apoptosis is thought to be responsible for the production of autoantibodies in lupus erythematosus (LE). The presentation of these antigens to immunologically competent cells may trigger systemic autoimmunity. The influence of a functional single-nucleotide polymorphism at position -670 in the promoter of the apoptosis gene FAS on susceptibility to autoimmune diseases including systemic LE has been a controversial subject. Although it has not yet been possible to assign any particular allele or genotype to the control of FAS expression, this polymorphism has been described to be associated with several autoimmune diseases including LE. When we compared the FAS -670 A/G genotypes of 107 German patients with LE and those of 96 healthy controls, we found a trend for association between LE and the homozygous A genotype in the patient group. This finding suggests that apoptosis may contribute to development of autoimmune reactions and that FAS function might be relevant for LE.
Department of Dermatology and Allergology, Ludwig Maximilian University Munich, Munich, Germany. sonja.molin@med.uni-muenchen.de
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D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005858:Germany; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics*; D019014:fas Receptor / Q000235:genetics*
C491901:FAS protein, human; D019014:fas Receptor