@article{3ff343e3e29b443d88bfd17e1fedbc0a,
title = "Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population",
abstract = "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.",
author = "Akari Suzuki and Ryo Yamada and Yuta Kochi and Tetsuji Sawada and Yukinori Okada and Koichi Matsuda and Yoichiro Kamatani and Mikako Mori and Kenichi Shimane and Yasuhiko Hirabayashi and Atsushi Takahashi and Tatsuhiko Tsunoda and Akihiko Miyatake and Michiaki Kubo and Naoyuki Kamatani and Yusuke Nakamura and Kazuhiko Yamamoto",
note = "Funding Information: We thank K. Kobayashi, M. Ohtake-Yamanaka, E. Kanno and all members of the rheumatoid arthritis team for their advice and technical assistance; H. Kawakami and T. Kawaguchi for their expertise in computer programming; and members of the Center for Genomic Medicine of RIKEN and the Biomedical Research Laboratories of Sankyo Co. Ltd. for helpful discussions and assistance in various aspects of this study. We are also grateful to members of the Rotary Club of Osaka-Midosuji District 2660 Rotary International in Japan, the Pharma SNP Consortium in Japan and the BioBank Japan Project for supporting our study. This work was supported by grants from the Japanese Millennium Project and the Japanese Ministry of Health, Labor and Welfare.",
year = "2008",
month = oct,
doi = "10.1038/ng.205",
language = "English",
volume = "40",
pages = "1224--1229",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "10",
}