A study utilizing the research resources of BioBank Japan (BBJ) has been published in Cell Genomics.

A research team led by Assistant Professor Kyuto Sonehara (at the time of the study) and Professor Yukinori Okada (Graduate School of Medicine, The University of Tokyo and other affilications) conducted a comprehensive analysis of rare and structural variants in psoriasis using whole-genome sequencing of 1,415 Japanese psoriasis patients and 3,968 control subjects, both groups including participants from BBJ. In the analysis of structural variants, a 3.3-kb deletion in a non-coding region at the IFNLR1 locus was found to significantly reduce the risk of psoriasis. The analysis of rare variants identified CERCAM as a novel psoriasis-associated gene. Furthermore, in experiments using Cercam-deficient mice, exacerbation of skin inflammation was observed in a psoriasis model.

Original paper

Whole-genome sequencing reveals rare and structural variants contributing to psoriasis and identifies CERCAM as a risk gene
Cell Genom. 2025 Aug 19:100978

Press release article from The University of Tokyo (Japanese only)

https://www.u-tokyo.ac.jp/content/400269615.pdf