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The combination of polymorphisms within interferon‐γ receptor 1 and receptor 2 associated with the risk of systemic lupus erythematosus
Author(s) -
Nakashima Hitoshi,
Inoue Hisako,
Akahoshi Mitsuteru,
Tanaka Yosuke,
Yamaoka Kunihiro,
Ogami Eiichi,
Nagano Shuuji,
Arinobu Yojiro,
Niiro Hiroaki,
Otsuka Takeshi,
Niho Yoshiyuki
Publication year - 1999
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(99)00701-2
Subject(s) - genotype , receptor , immunology , allele , polymorphism (computer science) , interferon gamma , allele frequency , amino acid , genetics , biology , medicine , immune system , gene
Genetic factors seem to play a significant role in susceptibility to systemic lupus erythematosus (SLE). We previously described the amino acid polymorphism (Val14Met) within the IFN‐γ receptor 1 ( IFN‐γR1 ), 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) Immunogenetics 49, 266–271]. We also found an amino acid polymorphism (Gln64Arg) within IFN‐γ receptor 2 ( IFN‐γR2 ). Since the IFN‐γ receptor is a complex consisting of IFN‐γR1 and IFN‐γR2, we searched for the particular combination of two kinds of amino acid polymorphisms found within the IFN‐γ receptor which plays a prominent role in susceptibility to SLE. The greatest risk of the development of SLE was detected in the individuals who had the combination of IFNGR1 Met14/Val14 genotype and IFNGR2 Gln64/Gln64 genotype.