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

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 tha...

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Bibliographic Details
Published in:FEBS letters 1999-06, Vol.453 (1), p.187-190
Main Authors: Nakashima, Hitoshi, Inoue, Hisako, Akahoshi, Mitsuteru, Tanaka, Yosuke, Yamaoka, Kunihiro, Ogami, Eiichi, Nagano, Shuuji, Arinobu, Yojiro, Niiro, Hiroaki, Otsuka, Takeshi, Niho, Yoshiyuki
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Amino Acid Sequence
Arginine - genetics
Base Sequence
Female
Gene Frequency
Genetic polymorphism
Genetic Predisposition to Disease
Glutamine - genetics
Humans
IFN-γR1, interferon-γ receptor 1
IFN-γR2, interferon-γ receptor 2
Interferon gamma Receptor
Interferon-γ receptor 1 (IFN-γR1)
Interferon-γ receptor 2 (IFN-γR2)
Lupus Erythematosus, Systemic - epidemiology
Lupus Erythematosus, Systemic - genetics
Male
Methionine - genetics
Middle Aged
Molecular Sequence Data
Odds Ratio
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Receptors, Interferon - genetics
Reverse Transcriptase Polymerase Chain Reaction
SLE, systemic lupus erythematosus
Susceptibility
Systemic lupus erythematosus (SLE)
Valine - genetics
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Summary: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.
ISSN:0014-5793
1873-3468
DOI:10.1016/S0014-5793(99)00701-2