Research findings using BioBank Japan samples and data were published in Nature Communications on January 31, 2024. A research group led by Dr. Chikashi Terao of RIKEN and Prof. Koichi Matsuda of the University of Tokyo, and director of BioBank Japan, conducted the largest genome-wide association study (GWAS) on systemic scleroderma (SSc) in Asian. The study identified novel disease-related single nucleotide polymorphisms (SNPs) and revealed their role in SSc pathogenesis.
SSc, a systemic autoimmune disease, causes fibrosis in organs such as the skin, lungs, and gastrointestinal tract. While genetic and environmental factors contribute to its development, few studies have explored SSc’s genetic basis in East Asians.
This research discovered a new genetic factor associated with SSc in East Asians and clarified its role in disease develpment. The findings advance genome research on SSc and other autoimmune diseases, paving the way for improved diagnostics and treatment.

＜Publication＞
GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region
DOI: 10.1038/s41467-023-44541-z

＜Press Release＞
https://www.k.u-tokyo.ac.jp/information/category/press/10771.html