This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

eLife · Jul 15, 2025Peer-reviewedGenetics

Genetic insights into ossification of the posterior longitudinal ligament of the spine

Yoshinao Koike, Masahiko Takahata, Masahiro Nakajima, Nao Otomo, Hiroyuki Suetsugu, Xiaoxi Liu, Tsutomu Endo, Shiro Imagama, Kazuyoshi Kobayashi, Takashi Kaito, Satoshi Kato, Yoshiharu Kawaguchi, Masahiro Kanayama, Hiroaki Sakai, Takashi Tsuji, , Shiro Ikegawa

This study identifies genetic loci and causal traits associated with ossification of the posterior longitudinal ligament of the spine using GWAS and Mendelian randomization analyses.

eLife · Jun 16, 2023Peer-reviewedGenetic & Genomic Medicine

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis

Hao Qiang Yu, Anas M. Khanshour, Aki Ushiki, Nao Otomo, Yoshinao Koike, Elísabet Einarsdóttir, Yanhui Fan, Lilian Antunes, Yared H. Kidane, Reuel Cornelia, Rory R. Sheng, Yichi Zhang, Jimin Pei, Nick V. Grishin, Bret M. Evers, , Carol A. Wise

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

bioRxiv · May 26, 2023 · PreprintGenetics

Meta-analysis of 208,370 East Asians identifies 113 genomic loci and yields new non-immune cell relevant biological insights for systemic lupus erythematosus

Xianyong Yin, Kwang-Woo Kim, Hiroyuki Suetsugu, So‐Young Bang, Leilei Wen, Masaru Koido, Eunji Ha, Lu Liu, Yuma Sakamoto, Sungsin Jo, Rui‐Xue Leng, Nao Otomo, Viktoryia Laurynenka, Young-Chang Kwon, Yujun Sheng, , Sang‐Cheol Bae

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.

Annals of the Rheumatic Diseases · Dec 3, 2020Peer-reviewedGenetic & Genomic Medicine