The combination of polymorphisms within interferon-gamma receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus

Genetic factors seem to play a significant role in susceptibility to system ic lupus erythematosus (SLE), We previously described the amino acid polymo rphism (Val14Met) within the IFN-gamma receptor 1 (IFN-gamma R1), and that the frequency of the Met14 allele in SLE patients was significantly higher than that of the healthy control population [Tanaka et al, (1999) Immunogen etics 49, 266-271]. We also found an amino acid polymorphism (Gln64Arg) wit hin IFN-gamma receptor 2 (IFN-gamma R2), Since the IFN-gamma receptor is a complex consisting of IFN-gamma R1 and IFN-gamma R2, we searched for the pa rticular combination of two kinds of amino acid polymorphisms found within the IFN-gamma receptor which plays a prominent role in susceptibility to SL E, The greatest risk of the development of SLE was detected in the individu als who had the combination of IFNGR1 Met14/Val14 genotype and IFNGR2 Gln64 /Gln64 genotype. (C) 1999 Federation of European Biochemical Societies.