Identification of eight genes associated with recurrent patellar dislocation
Zijie Xu,
Siyuan Huang,
Yifan Song,
Chao Xu,
Hongyu Yan,
Ouyang Linkun,
Bo Lv,
Fuzhen Yuan,
Bingbing Xu,
Haijun Wang,
Ruibin Xi,
Jia-Kuo Yu
Affiliations
Zijie Xu
Sports Medicine Department, Beijing Key Laboratory of Sports Injuries, Peking University Third Hospital, Beijing, China; Institute of Sports Medicine, Peking University, Beijing, China
Siyuan Huang
Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China
Yifan Song
Orthopaedic Sports Medicine Center, Beijing Tsinghua Changgung Hospital, Affiliated Hospital of Tsinghua University, Beijing, China
Chao Xu
The Department of Joint Surgery and Sports Medicine, The Second Affiliated Hospital of Xinjiang Medical University, Urumchi, China
Hongyu Yan
Department of Pediatric Neurology, Children’s Hospital Affiliated to the Capital Institute of Pediatrics, Peking University, Beijing, China
Ouyang Linkun
Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China
Bo Lv
Department of Orthopedics, People’s Hospital of Guilin, Guilin, Guangxi, China
Fuzhen Yuan
Sports Medicine Department, Beijing Key Laboratory of Sports Injuries, Peking University Third Hospital, Beijing, China; Institute of Sports Medicine, Peking University, Beijing, China
Bingbing Xu
Sports Medicine Department, Beijing Key Laboratory of Sports Injuries, Peking University Third Hospital, Beijing, China; Institute of Sports Medicine, Peking University, Beijing, China
Haijun Wang
Sports Medicine Department, Beijing Key Laboratory of Sports Injuries, Peking University Third Hospital, Beijing, China; Institute of Sports Medicine, Peking University, Beijing, China; Corresponding author
Ruibin Xi
School of Mathematical Sciences and Center for Statistical Science, Peking University, Beijing, China; Corresponding author
Jia-Kuo Yu
Orthopaedic Sports Medicine Center, Beijing Tsinghua Changgung Hospital, Affiliated Hospital of Tsinghua University, Beijing, China; Corresponding author
Summary: The inheritance of recurrent patellar dislocation (RPD) is known, but the susceptible gene remains unidentified. Here, we performed the first whole exome sequencing (WES) cohort study to identify the susceptible genes. The results showed eight genes were associated with this disease. Notably, the carboxypeptidase D (CPD) gene showed the highest relevance based on its gene function and tissue expression. Single-cell sequencing results indicate that the CPD gene is involved in the pathophysiological process of RPD through granulocytes. Implicated pathways include nuclear factor kappa B (NF-κB), mitogen-activated protein kinase (MAPK), and Wnt/β-catenin signaling, potentially influencing CPD’s role in RPD pathogenesis. This study identified the susceptible gene and investigates the potential pathogenesis of RPD, which provided a new prospect for the understanding of RPD. Besides, it would offer the theoretical basis for disease prevention and genetic counseling.
