ANCA-associated vasculitis, systemic lupus erythematosus, human genomics
Major Scientific Interests of the Group
Our laboratory is interested in genetics and
genomics of human autoimmune rheumatic diseases
such as ANCA-associated vasculitis, systemic lupus
erythematosus and systemic sclerosis. We are
taking advantage of genome-wide approach and
candidate gene approach in combination to identify
genomic variants associated with development of the
diseases, as well as those associated with their
serious complications such as interstitial lung
disease.
Currently, we are specifically interested in
susceptibility genes to ANCA-associated vasculitis
in east Asian populations, whose epidemiology
greatly differs from that in the European populations,
and largely unexplored. We are also interested in the
role of variations in the genes whose analysis
remains challenging, such as multigene families and
those with genomic structural variations.
Projects for Regular Students in Doctoral or
Master’s Programs
1. Identification of genomic variations associated
with autoimmune rheumatic diseases
2. Biologic and bioinformatic analyses of the
variations associated with autoimmune
rheumatic diseases
Study Programs for Short Stay Students (one
week – one trimester)
Genome database (tutorial), SNV genotyping
(laboratory).
Other Faculty Members
Assistant Professor Aya Kawasaki
●Our studies are expected to lead to better understanding of the pathogenesis of these enigmatic intractable
diseases, as well as to identification of molecular targets and biomarkers valuable in establishing future
precision medicine for human autoimmune rheumatic diseases.
●1) Kawasaki A et al. Association of TERT and DSP variants with microscopic polyangiitis and myeloperoxidase-ANCA
positive vasculitis in a Japanese population: a genetic association study. Arthritis Res Ther 2020; 22: 246.
●2) Yamashita K, et al. Association of functional (GA)n microsatellite polymorphism in the FLI1 gene with susceptibility to
human systemic sclerosis. Rheumatology 2020;59:3553-62.
●3) Yokoyama N, et al.. Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis, but
not with ANCA-associated vasculitis in a Japanese population. Sci Rep 2019;9:16366.
●3) Namba N, et al.. Association of MUC5B promoter polymorphism with interstitial lung disease in myeloperoxidaseantineutrophil
cytoplasmic antibody – associated vasculitis. Ann Rheum Dis 2019;78:1144-6.
●5) Juge P-A, et al. MUC5B promoter variant and rheumatoid arthritis with interstitial lung disease. N Engl J Med 2018;379: