Development of strategy to clarify pathophysiology of rare autoimmune diseases and lead to novel treatment through genetic studies
| Project/Area Number |
16H06251
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (A)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Collagenous pathology/Allergology
|
|---|
| Research Institution | Institute of Physical and Chemical Research (2017)
Kyoto University (2016) |
|---|
Principal Investigator |
TERAO CHIKASHI 国立研究開発法人理化学研究所, 統合生命医科学研究センター, 上級研究員 (60610459)
|
|---|
| Project Period (FY) |
2016-04-01 – 2018-03-31
|
| Project Status |
Completed (Fiscal Year 2017)
|
| Budget Amount *help |
¥24,310,000 (Direct Cost: ¥18,700,000、Indirect Cost: ¥5,610,000)
Fiscal Year 2017: ¥11,700,000 (Direct Cost: ¥9,000,000、Indirect Cost: ¥2,700,000)
Fiscal Year 2016: ¥12,610,000 (Direct Cost: ¥9,700,000、Indirect Cost: ¥2,910,000)
|
|---|
| Keywords | 高安動脈炎 / 強皮症 / 再発性多発軟骨炎 / 希少疾患 / 遺伝子解析 / ゲノム / 免疫 / 全ゲノム関連解析 / 希少免疫疾患 / 治療標的 / 遺伝子 / マイクロアレイ |
|---|
| Outline of Final Research Achievements |
We conducted a genome-wide association study (GWAS) followed by a replication study, using a total of 633 Takayasu arteritis cases and 5928 controls. We identified four novel significant loci, namely, PTK2B, LILRA3/LILRB2, DUSP22, and KLHL33, and two additional loci which are novel in non-European GWAS, HSPA6/FCGR3A and chr21q.22. Enhancer enrichment analysis suggested NK cell involvement.
We performed trans-ethnic meta-analysis of systemic sclerosis (SSc) GWAS in the Japanese and European populations comprising a total of 4,436 cases and 14,751 controls. We identified GSDMA and PRDM1, both of which are also associated with other autoimmune diseases, as novel susceptibility genes to SSc (p=1.4x10-10 and 6.6x10-10, respectively).
A total of 102 patients with relapsing polychondritis (RP) and 1,000 healthy subjects were genotyped for six HLA classical loci. We identified a total of three novel susceptibility HLA alleles, namely, HLA-DRB1*16:02, HLA-DQB1*05:02, and HLA-B*67:01.
|
Report
(3 results)
Research Products
(15 results)
-
-
-
-
-
-
-
-
[Journal Article] Anti-centromere antibody exhibits specific distribution levels among anti-nuclear antibodies and may characterize a distinct subset in rheumatoid arthritis.2017
Author(s)
Kuramoto N, Ohmura K, Ikari K, Yano K, Furu M, Yamakawa N, Hashimoto M, Ito H, Fujii T, Murakami K, Nakashima R, Imura Y, Yukawa N, Yoshifuji H, Taniguchi A, Momohara S, Yamanaka H, Matsuda F, Mimori T, Terao C
-
Journal Title
Sc Rep
Volume: 7
Issue: 1
Pages: 6911-6911
DOI
NAID
Related Report
Peer Reviewed / Open Access
-
-
[Journal Article] Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis.2017
Author(s)
Terao C, Kawaguchi T, Dieude P, Varga J, Kuwana M, Hudson M, Kawaguchi Y, Matucci-Cerinic M, Ohmura K, Riemekasten G, Kawasaki A, Airo P, Horita T, Oka A, Hachulla E, Yoshifuji H, Caramaschi P, Hunzelmann N, Baron M, Atsumi T, Hassoun P, Torii T, Takahashi M, et al.
-
Journal Title
Ann Rheum Dis.
Volume: 印刷中
Issue: 6
Pages: 1150-1158
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
-
[Journal Article] Genotyping of relapsing polychondritis identified novel susceptibility HLA alleles and distinct genetic characteristics from other rheumatic diseases.2016
Author(s)
Terao C, Yoshifuji H, Yamano Y, Kojima H, Yurugi K, Miura Y, Maekawa T, Handa H, Ohmura K, Saji H, Mimori T, Matsuda F.
-
Journal Title
Rheumatology(Oxford)
Volume: 55(9)
Issue: 9
Pages: 1686-92
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
-
-
-
-
