Whole-Exome Sequencing Identifies Eight Genes Associated with Recurrent Patellar Dislocation

The inheritance of recurrent patellar dislocation (RPD) is konwn, but the susceptible gene remian 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 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 NF-kappa B, MAPK, and Wnt/β-catenin signaling, potentially influencing CPD's role in RPD pathogenesis. This study identified the susceptible gene and investigate 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. Bone marrow samples were aspirated from the distal femur of three RPD patients recruited at Peking University Third Hospital. The bone marrow scRNA-seq data of three non-RPD controls were obtained from the periouse published study48. The bone marrow samples were collected into heparin tubes and density gradient centrifugation was used to isolate bone marrow cells. The single-cell RNA libraries were prepared using Chromium Single Cell 5’ Library and Gel Bead Kit. The sequence reads were mapped to the GRCH38 human reference genome using Cell Ranger 6.0.1 (10x Genomics).