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Replicated association of a regulatory polymorphism in the interferon γ gene with lupus susceptibility
  1. Kwangwoo Kim1,
  2. So-Yeon Park2,
  3. Taehyeung Kim1,
  4. Young Mo Kang3,
  5. Seung-Cheol Shim4,
  6. Chang-Hee Suh5,
  7. Yong-Beom Park6,
  8. Chang-sik Kim7,
  9. Changwon Kang1,
  10. Sang-Cheol Bae2
  1. 1Korea Advanced Institute of Science and Technology, Daejeon, Korea
  2. 2Hanyang University Hospital for Rheumatic Diseases, Seoul, Korea
  3. 3Kyungpook National University Hospital, Daegu, Korea
  4. 4Eulji University Hospital, Daejeon, Korea
  5. 5Ajou University Hospital, Suwon, Korea
  6. 6Yonsei University Severance Hospital, Seoul, Korea
  7. 7Chungnam National University Hospital, Daejeon, Korea
  1. Correspondence to Professor Changwon Kang, Department of Biological Sciences, Korea Advanced Institute of Science and Technology, Daejeon 305-701, Korea; ckang{at} or Professor Sang-Cheol Bae, Department of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Korea; scbae{at}

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Single-nucleotide polymorphisms (SNPs) of the human interferon γ gene (IFNG) were found to be associated with susceptibility to systemic lupus erythematosus (SLE) in our recent case–control study on 1759 unrelated Korean participants (742 SLE patients and 1017 controls).1 In particular, the SLE-susceptible (minor) allele in an SNP (rs2430561) located on an NF-κB binding site in the first intron was associated with elevated IFNG expression,2,,4 consistent with previous functional implications of high expression levels of IFNG in lupus pathogenesis in human disease and murine models,5,,7 although this SNP showed no association in several previous small studies.8,,10

In our original study,1 the effect size of this SNP was considerable with an OR of …

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  • KK and SYP contributed equally to this work and are joint first authors. CK and SCB contributed equally to this work.

  • Funding This work was supported by grants from the Research Program for New Drug Target Discovery (20090083335) and the Korean Healthcare Technology Research and Development Project (A080588).

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval This study was approved by the Institutional Review Boards of Hanyang University Hospital for Rheumatic Diseases, Kyungpook National University Hospital, Eulji University Hospital, Ajou University Hospital, Yonsei University Severance Hospital, Chungnam National University Hospital and Korea Advanced Institute of Science and Technology.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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