PMID- 18408250
OWN - NLM
STAT- MEDLINE
DCOM- 20090309
LR  - 20111117
IS  - 1468-2060 (Electronic)
IS  - 0003-4967 (Linking)
VI  - 68
IP  - 3
DP  - 2009 Mar
TI  - A single nucleotide polymorphism in the IRF5 promoter region is associated with 
      susceptibility to rheumatoid arthritis in the Japanese population.
PG  - 377-83
LID - 10.1136/ard.2007.085704 [doi]
AB  - OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family 
      of transcription factors, which regulate the production of proinflammatory 
      cytokines. Polymorphisms in the IRF5 gene have been associated with 
      susceptibility to systemic lupus erythaematosus (SLE) in Caucasian and Asian 
      populations, but their involvement in other autoimmune diseases is still 
      uncertain. Here, we assessed the genetic role of IRF5 in susceptibility to 
      rheumatoid arthritis (RA) in Japanese subjects. METHODS: We selected 13 single 
      nucleotide polymorphisms (SNPs) and a CGGGG insertion-deletion polymorphism in 
      the IRF5 gene. We performed 2 sets of case-control comparisons using Japanese 
      subjects (first set: 830 patients with RA and 658 controls; second set: 1112 
      patients with RA and 940 controls), and then performed a stratified analysis 
      using human leukocyte antigen (HLA)-DRB1 shared epitope (SE) status. We genotyped 
      the SNPs using TaqMan assays. RESULTS: A significant association of the rs729302 
      A allele with RA susceptibility was found in both sets (odds ratio (OR) 1.22, 95% 
      CI 1.09 to 1.35, p<0.001 in the combined analysis). When the patients were 
      stratified by the SE, the rs729302 A allele was found to confer increased risk to 
      RA in patients that were SE negative (OR 1.50, 95% CI 1.17 to 1.92, p = 0.001) as 
      compared with patients carrying the SE (OR 1.11, 95% CI 0.93 to 1.33, p = 0.24). 
      In both sets, no genotyped polymorphisms were significantly associated with RA 
      susceptibility, but rs729302 was significantly associated. CONCLUSIONS: These 
      findings indicate that the promoter polymorphism of IRF5 is a genetic factor 
      conferring predisposition to RA, and that it contributes considerably to disease 
      pathogenesis in patients that were SE negative.
FAU - Shimane, K
AU  - Shimane K
AD  - Department of Allergy and Rheumatology, Graduate School of Medicine, the 
      University of Tokyo, Tokyo, Japan.
FAU - Kochi, Y
AU  - Kochi Y
FAU - Yamada, R
AU  - Yamada R
FAU - Okada, Y
AU  - Okada Y
FAU - Suzuki, A
AU  - Suzuki A
FAU - Miyatake, A
AU  - Miyatake A
FAU - Kubo, M
AU  - Kubo M
FAU - Nakamura, Y
AU  - Nakamura Y
FAU - Yamamoto, K
AU  - Yamamoto K
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
DEP - 20080413
PL  - England
TA  - Ann Rheum Dis
JT  - Annals of the rheumatic diseases
JID - 0372355
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (IRF5 protein, human)
RN  - 0 (Interferon Regulatory Factors)
SB  - IM
MH  - Arthritis, Rheumatoid/epidemiology/*genetics
MH  - Case-Control Studies
MH  - Genetic Predisposition to Disease/genetics
MH  - Genotype
MH  - HLA-DR Antigens/genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Interferon Regulatory Factors/*genetics
MH  - Japan/epidemiology
MH  - Linkage Disequilibrium
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic/genetics
EDAT- 2008/04/15 09:00
MHDA- 2009/03/10 09:00
CRDT- 2008/04/15 09:00
PHST- 2008/04/15 09:00 [pubmed]
PHST- 2009/03/10 09:00 [medline]
PHST- 2008/04/15 09:00 [entrez]
AID - ard.2007.085704 [pii]
AID - 10.1136/ard.2007.085704 [doi]
PST - ppublish
SO  - Ann Rheum Dis. 2009 Mar;68(3):377-83. doi: 10.1136/ard.2007.085704. Epub 2008 Apr 
      13.