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Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population
  1. Ikue Ito1,
  2. Aya Kawasaki1,
  3. Satoshi Ito2,
  4. Yuya Kondo2,
  5. Makoto Sugihara2,
  6. Masanobu Horikoshi2,
  7. Taichi Hayashi2,
  8. Daisuke Goto2,
  9. Isao Matsumoto2,
  10. Akito Tsutsumi3,
  11. Yoshinari Takasaki4,
  12. Hiroshi Hashimoto5,
  13. Kunio Matsuta6,
  14. Takayuki Sumida2,
  15. Naoyuki Tsuchiya1
  1. 1Molecular and Genetic Epidemiology Laboratory, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan
  2. 2Division of Clinical Immunology, Doctoral Program in Clinical Sciences, Graduate School of Comprehensive Human Science, University of Tsukuba, Tsukuba, Japan
  3. 3Takikawa Municipal Hospital, Takikawa, Japan
  4. 4Division of Rheumatology, Department of Medicine, Juntendo University, Tokyo, Japan
  5. 5Juntendo University School of Medicine, Tokyo, Japan
  6. 6Matsuta Clinic, Tokyo, Japan
  1. Correspondence to Dr Naoyuki Tsuchiya, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba 305-8575, Japan; tsuchiya-tky{at}

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Polymorphisms in the genomic region encoding B lymphoid tyrosine kinase (BLK) and family with sequence similarity 167, member A (FAM167A, also referred to as C8orf13) at 8p23.1 have been associated with systemic lupus erythematosus (SLE) in Caucasian1 2 and Asian3 4 populations. A recent genome-wide study in a north American population showed new associations with rheumatoid arthritis (RA), among which was a single nucleotide polymorphism (SNP) rs2736340 in the intergenic region of BLK and FAM167A.5 In the HapMap Japanese samples (, this SNP is in absolute linkage disequilibrium (r2=1) with rs13277113, previously associated with SLE.1,,4 We have shown that the population frequency of the risk genotype rs13277113A/A and the OR for SLE …

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  • Funding This work was supported by Grant-in-Aid for Scientific Research (B) from Japan Society for the Promotion of Science (JSPS), Health and Labour Science Research Grants from the Ministry of Health, Labour and Welfare of Japan, Japan Rheumatism Foundation, The Naito Foundation and Mitsubishi Pharma Research Foundation.

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the University of Tsukuba, Juntendo University and the University of Tokyo.

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