title: A Fas promoter polymorphism at position -670 in the enhancer region does not confer susceptibility to Felty's and large granular lymphocyte syndromes.
abstract: OBJECTIVE
  We examined whether there are associations between a polymorphism in the Fas promoter, recently found to be associated with rheumatoid arthritis (RA), and Felty's syndrome or large granular lymphocyte (LGL) leukaemia.
  
  
  METHODS
  Thirty-five patients with Felty's were studied, along with 18 patients with LGL syndrome and arthritis, 17 patients with LGL syndrome but no arthritis, and 128 controls. The polymorphism was typed by polymerase chain reaction followed by digestion with the restriction enzyme MvaI.
  
  
  RESULTS
  No significant difference was found in genotype or allele frequencies between the groups.
  
  
  CONCLUSIONS
  This promoter polymorphism is not a significant risk factor responsible for the LGL expansions seen in Felty's and LGL syndromes. Abnormal, constitutive expression of Fas ligand may be more relevant to the aetiology of these diseases.
authors.affiliation: Department of Molecular Immunogenetics, Guy's, King's and St Thomas' School of Medicine, Guy's Hospital, London, UK.
authors.forename: G
authors.initials: G
authors.lastname: Coakley
authors.forename: N
authors.initials: N
authors.lastname: Manolios
authors.forename: T P
authors.initials: TP
authors.lastname: Loughran
authors.forename: G S
authors.initials: GS
authors.lastname: Panayi
authors.forename: J S
authors.initials: JS
authors.lastname: Lanchbury
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D004742:Enhancer Elements, Genetic; D005258:Felty Syndrome / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007945:Leukemia, Lymphoid / Q000235:genetics*; D008214:Lymphocytes; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D019014:fas Receptor / Q000235:genetics*
chemical_list: D019014:fas Receptor