Laboratory for Autoimmune Diseases
Laboratory Head
Kazuhiko YAMAMOTO (M.D., Ph.D.)
Autoimmune diseases such as rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE) are considered to be complex multi-genetic diseases. Our goal is to identify disease susceptibility genes for RA and SLE by genome-wide association studies in Japanese population using single nucleotide polymorphisms. as well as methods of molecular genetics and immunology. We have reported multiple RA-associated genes including four major findings on "PADI4", "SLC22A4", "FCRL3", "CD244"and "CCR6). We also study how these genes are involved in the disease pathogenesis by usign animal disease models.
- Genome-wide association study for rheumatoid arthritis
- Genome-wide association study for systemic lupus erythematosus
- Functional analysis of rheumatoid arthritis-associated genes, PADI4, SLC22A4, FCRL3, and CD244
- Discovery of novel rheumatoid arthritis-associated gene(s) in HLA region with linkage disequilibrium analysis
- May 10,2010
- CCR6 gene identified as causative factor in onset of articular rheumatism
- September 15, 2008
- Identifying a new gene, CD244, causing rheumatoid arthritis
- Kochi, Y, Okada, Y, Suzuki, A, et al:
"A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility"
Nature Genetics, 42 (6): 515-9 (2010) - Okada, Y, Yamada, R, Yamamoto, K., et al:
"Contribution of a haplotype in the HLA region to anti-cyclic citrullinated peptide antibody positivity in rheumatoid arthritis, independently of HLA-DRB1"
Arthritis & Rheumatism 60(12):3582-90 (2009). - Kochi, Y., Myouzen, K., Yamamoto, K., et al:
"FCRL3, an autoimmune susceptibility gene, has inhibitory potential on B-cell receptor-mediated signaling"
Journal of Immunology 183(9):5502-10 (2009) - Shimane, K, Kochi, Y, Yamamoto, K., et al:
"A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population."
Annals of Rheumatic Diseases., 68(3), 377-383 (2009) - Suzuki, A, Yamada, R, Yamamoto, K., et al:
"Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population."
Nature Genetics, 40(10), 1224-1229 (2008). - Okazaki, Y, Suzuki, A, Yamamoto, K., et al:
"Identification of citrullinated eukaryotic translation initiation factor 4G1 as novel autoantigen in rheumatoid arthritis"
Biochemical and Biophysical Research Communications, 341, 94-100 (2006). - Suzuki, A, Yamada, R, Yamamoto, K., et al:
"Anti-citrullinated collagen type I antibody is a target of autoimmunity in rheumatoid arthritis"
Biochemical and Biophysical Research Communications, 333, 418-426 (2005). - Kochi, Y., Yamada, R., Yamamoto, K., et al:
"Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences"
Arthritis & Rheumatism 50(1), 63-71 (2004). - Tokuhiro, S., Yamada, S., Yamamoto, K., et al:
"An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis"
Nature Genetics, 35(4), 341-348 (2003). - Suzuki, A., Yamada, R., Yamamoto, K., et al:
"Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis"
Nature Genetics, 34(4), 395-402 (2003).