Letter abstract
Nature Genetics 40, 1224 - 1229 (2008)
Published online: 14 September 2008 | doi:10.1038/ng.205
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population
Akari Suzuki1, Ryo Yamada1,2, Yuta Kochi1, Tetsuji Sawada3, Yukinori Okada2, Koichi Matsuda4, Yoichiro Kamatani4, Mikako Mori1,3, Kenichi Shimane1,3, Yasuhiko Hirabayashi5, Atsushi Takahashi6, Tatsuhiko Tsunoda7, Akihiko Miyatake8, Michiaki Kubo9, Naoyuki Kamatani6, Yusuke Nakamura4,10 & Kazuhiko Yamamoto1,3
Rheumatoid arthritis is a chronic autoimmune inflammatory disease with a complex genetic etiology. Members of the signaling lymphocyte activation molecule (SLAM) family carry out pivotal functions in innate immunity and in conventional lymphocytes. We identified a linkage disequilibrium block associated with rheumatoid arthritis in the chromosome 1q region containing multiple SLAM family genes. In this block, the association peaked at two functional SNPs (rs3766379 and rs6682654) in CD244 in two independent rheumatoid arthritis cohorts from Japan (P = 3.23 
10-8 and P = 7.45 10-8). We also identified a Japanese cohort with systemic lupus erythematosus that had a similar genotype distribution as the rheumatoid arthritis cohorts. We demonstrated that the rheumatoid arthritis–susceptible alleles of rs3766379 and rs6682654 and their haplotype increased their expression in luciferase and allele-specific transcript quantification assays. CD244 is a genetic risk factor for rheumatoid arthritis and may have a role in the autoimmune process shared by rheumatoid arthritis and systemic lupus erythematosus.
- Laboratory for Autoimmune Diseases, Center for Genomic Medicine, RIKEN, 1-7-22 Suehirocho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
- Laboratory of Functional Genomics, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
- Department of Allergy and Rheumatology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo Bunkyo-ku, Tokyo 113-0033, Japan.
- Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo 108-8639, Japan.
- Department of Rheumatology and Hematology, Graduate School of Medicine, Tohoku University, 1-1 Seiryo-cho, Aoba-ku, Sendai, Miyagi 980-8574, Japan.
- Laboratory for Statistical Analysis and, RIKEN, 1-7-22 Suehirocho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
- Laboratory for Medical Informatics, RIKEN, 1-7-22 Suehirocho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
- Miyatake Asthma Clinic, 2-3-3 Nishi-Shinsaibashi, Chuo-ku, Osaka 542-0086, Japan.
- Laboratory for Genotyping, RIKEN, 1-7-22 Suehirocho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
- Center for Genomic Medicine, RIKEN, 1-7-22 Suehirocho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan.
Correspondence to: Kazuhiko Yamamoto1,3 e-mail: yamamoto-tky@umin.ac.jp
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