Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population

Akari Suzuki, Ryo Yamada, Yuta Kochi, Tetsuji Sawada, Yukinori Okada, Koichi Matsuda, Yoichiro Kamatani, Mikako Mori, Kenichi Shimane, Yasuhiko Hirabayashi, Atsushi Takahashi, Tatsuhiko Tsunoda, Akihiko Miyatake, Michiaki Kubo, Naoyuki Kamatani, Yusuke Nakamura, Kazuhiko Yamamoto

Research output: Contribution to journalArticlepeer-review

99 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1224-1229
Number of pages6
JournalNature Genetics
Issue number10
Publication statusPublished - 10-2008
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics


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