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 systemic lupus erythematosus (SLE). We previously described the amino acid polymorphism (Val14Met) within the IFN-gamma receptor 1 (IFN-gammaRI), and that the frequency of the Metl4 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-gamma receptor 2 (IFN-gammaR2). Since the IFN-gamma receptor is a complex consisting of IFN-gammaR1 and IFN-gammaR2, we searched for the particular combination of two kinds of amino acid polymorphisms found within the IFN-gamma 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.
Nakashima
H
H
First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan. hnakashi@intmend1.med.khyshu-u.ac.jp
Inoue
H
H
Akahoshi
M
M
Tanaka
Y
Y
Yamaoka
K
K
Ogami
E
E
Nagano
S
S
Arinobu
Y
Y
Niiro
H
H
Otsuka
T
T
Niho
Y
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D001483:Base Sequence; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005973:Glutamine / Q000235:genetics; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D008969:Molecular Sequence Data; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D017471:Receptors, Interferon / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014633:Valine / Q000235:genetics; D000096743:Interferon gamma Receptor
D001120:Arginine; D005973:Glutamine; D008715:Methionine; D017471:Receptors, Interferon; D014633:Valine; D000096743:Interferon gamma Receptor