| 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)
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| 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.
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