PMID- 10079289
OWN - NLM
STAT- MEDLINE
DCOM- 19990423
LR  - 20190831
IS  - 0093-7711 (Print)
IS  - 0093-7711 (Linking)
VI  - 49
IP  - 4
DP  - 1999 Apr
TI  - Association of the interferon-gamma receptor variant (Val14Met) with systemic
      lupus erythematosus.
PG  - 266-71
AB  - Genetic factors seem to play a significant role in susceptibility to systemic
      lupus erythematosus (SLE). The purpose of this study was to investigate whether
      the amino acid polymorphism (Val14Met) found within the IFN-gamma receptor gene
      (IFNGR1) plays a prominent role in susceptibility to SLE. We found Val14Met
      located at the COOH terminal of the signal peptide of the IFN-gamma receptor.
      There was a significant difference in this polymorphism frequency between SLE
      patients and healthy populations. To clarify whether this amino acid substitution
      resulted in the alteration of the receptor function, we evaluated the induction
      of HLA-DR antigen expression on B cells by IFN-gamma stimulation. There was also 
      a significant difference in the induction of HLA-DR by IFN-gamma stimulation
      between B cells. Furthermore, an intracellular cytokine assay indicated that the 
      Th1/Th2 balance of Th cells bearing the variant receptor shifted to Th2. The
      genetic polymorphism found within the IFN-gamma receptor gene (Val14Met) may
      result in a shift to Th2, and this shift may increase susceptibility to SLE.
FAU - Tanaka, Y
AU  - Tanaka Y
AD  - First Department of Internal Medicine, Faculty of Medicine, Kyushu University,
      Fukuoka 812-8582, Japan.
FAU - Nakashima, H
AU  - Nakashima H
FAU - Hisano, C
AU  - Hisano C
FAU - Kohsaka, T
AU  - Kohsaka T
FAU - Nemoto, Y
AU  - Nemoto Y
FAU - Niiro, H
AU  - Niiro H
FAU - Otsuka, T
AU  - Otsuka T
FAU - Otsuka, T
AU  - Otsuka T
FAU - Imamura, T
AU  - Imamura T
FAU - Niho, Y
AU  - Niho Y
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Immunogenetics
JT  - Immunogenetics
JID - 0420404
RN  - 0 (DNA, Complementary)
RN  - 0 (Receptors, Interferon)
RN  - 07MXG07O12 (interferon gamma receptor)
RN  - 207137-56-2 (Interleukin-4)
RN  - 82115-62-6 (Interferon-gamma)
RN  - AE28F7PNPL (Methionine)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - DNA, Complementary
MH  - Female
MH  - *Genetic Variation
MH  - Humans
MH  - Interferon-gamma/analysis
MH  - Interleukin-4/analysis
MH  - Lupus Erythematosus, Systemic/*genetics/immunology
MH  - Male
MH  - Methionine/genetics
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Receptors, Interferon/*genetics
MH  - Valine/genetics
EDAT- 1999/03/18 00:00
MHDA- 1999/03/18 00:01
CRDT- 1999/03/18 00:00
PHST- 1999/03/18 00:00 [pubmed]
PHST- 1999/03/18 00:01 [medline]
PHST- 1999/03/18 00:00 [entrez]
AID - 10.1007/s002510050492 [doi]
PST - ppublish
SO  - Immunogenetics. 1999 Apr;49(4):266-71. doi: 10.1007/s002510050492.