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