title: Fas gene polymorphisms in systemic lupus erythematosus and serum levels of some apoptosis-related molecules.
abstract: The frequency of the Fas gene polymorphism at positions-1377 G/A and -670 A/G in 249 patients with systemic lupus erythematosus (SLE) and 212 healthy controls were investigated using the allele-specific polymerase chain reaction. On evaluation of genotype and allelic distributions at position -670, no significant difference was observed between patients and controls. At position -1377, the GG genotype and G allele was higher in the patient group than in the control group (p < 0.036). The haplotype frequencies showed a significant difference between patients and controls (p = 0.045). The association of these polymorphisms and Fas and Fas ligand serum levels and also anti-SSA/Ro and anti-SSB/La antibodies were studied in a second cohort of SLE patients. Soluble Fas and Fas ligand levels were both significantly higher in the patient group compared with controls (p = 0.001), but they showed no significant association with the studied polymorphisms. Anti-SSA/Ro and anti-SSB/La were not correlated with soluble Fas and Fas lignad levels, but patients with the -670GG genotype showed lower amounts of anti-SSB/La in their serum. In conclusion, results of this study imply that Fas promoter polymorphisms might contribute to individual susceptibility to SLE and influence the anti-SSB/La autoantibody response in patients.
authors.affiliation: Department of Immunology, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Julia Maryam
authors.initials: JM
authors.lastname: Arasteh
authors.forename: Julia Maryam
authors.initials: JM
authors.lastname: Araste
authors.forename: Eskandar Kamali
authors.initials: EK
authors.lastname: Sarvestani
authors.forename: Elham
authors.initials: E
authors.lastname: Aflaki
authors.forename: Zahra
authors.initials: Z
authors.lastname: Amirghofran
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000974:Antibodies, Antinuclear / Q000097:blood; D017209:Apoptosis / Q000235:genetics* / Q000276:immunology; D004252:DNA Mutational Analysis; D053222:Fas Ligand Protein / Q000097:blood / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007492:Iran; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000235:genetics* / Q000276:immunology* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D019014:fas Receptor / Q000097:blood / Q000235:genetics*
chemical_list: D000974:Antibodies, Antinuclear; D053222:Fas Ligand Protein; D019014:fas Receptor