抄録
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.
| 元の言語 | English |
|---|---|
| ページ（範囲） | 1224-1229 |
| ページ数 | 6 |
| ジャーナル | Nature Genetics |
| 巻 | 40 |
| 発行部数 | 10 |
| DOI | |
| 出版物ステータス | Published - 01-10-2008 |
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All Science Journal Classification (ASJC) codes
- Genetics
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Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population. / Suzuki, Akari; Yamada, Ryo; Kochi, Yuta; Sawada, Tetsuji; Okada, Yukinori; Matsuda, Koichi; Kamatani, Yoichiro; Mori, Mikako; Shimane, Kenichi; Hirabayashi, Yasuhiko; Takahashi, Atsushi; Tsunoda, Tatsuhiko; Miyatake, Akihiko; Kubo, Michiaki; Kamatani, Naoyuki; Nakamura, Yusuke; Yamamoto, Kazuhiko.
：: Nature Genetics, 巻 40, 番号 10, 01.10.2008, p. 1224-1229.研究成果: Article
TY - JOUR
T1 - Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population
AU - Suzuki, Akari
AU - Yamada, Ryo
AU - Kochi, Yuta
AU - Sawada, Tetsuji
AU - Okada, Yukinori
AU - Matsuda, Koichi
AU - Kamatani, Yoichiro
AU - Mori, Mikako
AU - Shimane, Kenichi
AU - Hirabayashi, Yasuhiko
AU - Takahashi, Atsushi
AU - Tsunoda, Tatsuhiko
AU - Miyatake, Akihiko
AU - Kubo, Michiaki
AU - Kamatani, Naoyuki
AU - Nakamura, Yusuke
AU - Yamamoto, Kazuhiko
PY - 2008/10/1
Y1 - 2008/10/1
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=52949100576&partnerID=8YFLogxK
U2 - 10.1038/ng.205
DO - 10.1038/ng.205
M3 - Article
C2 - 18794858
AN - SCOPUS:52949100576
VL - 40
SP - 1224
EP - 1229
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 10
ER -