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[Press Release] Asia’s Largest Whole Genome Association Study of Scleroderma – Identification of a New Genetic Background and Involvement in Pathogenesis


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Research results using biological samples and data from Biobank Japan have been published in the online edition of the Nature Communications on January 31, 2023. A research group led by Team Leader Chikashi TERAO of RIKEN and Professor Koichi MATSUDA of the University of Tokyo, and the director of Biobank Japan, has conducted the largest whole genome association study (GWAS) of systemic scleroderma (SSc), an intractable systemic autoimmune disease, in Asian people, and identified novel disease-related single nucleotide polymorphisms (SNPs) and elucidated the role of this SNP in pathogenesis.
SSc is a collagen disease, a systemic autoimmune disease characterized by the hardening (fibrosis) of organs throughout the body, including the skin, lungs, and gastrointestinal tract. Multiple genetic and environmental factors are thought to be involved in its pathogenesis. Few GWAS of SSc have been conducted in East Asians in previous studies, and the genetic background of SSc in East Asians has not been well elucidated.
In this study, the research team found a new genetic factor associated with SSc in East Asians and elucidated how the genetic factor is involved in the pathogenesis of SSc. The results of this research are expected to contribute to the advancement of genome research on SSc and other autoimmune diseases, as well as to the development of routine medical care, including diagnosis and treatment.


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