Genetic study identifies novel genes in developmental dysplasia of the hip - PubMed
7 hours ago
- #developmental dysplasia of the hip
- #GWAS
- #genetics
- Genome-wide association studies (GWAS) in Japanese DDH cases identified three novel loci (COL11A2, CALN1, TRPM7) associated with hip dysplasia without dislocation.
- Genetic signals differed between hip dysplasia subtypes, with no significant association in dislocated hips and opposite directions for some loci.
- Trans-ancestry meta-analysis with UK DDH GWAS revealed two additional loci (COL11A1 and GDF5), supported by strong genetic correlation.
- Nine loci were identified for DDH and its subtypes, implicating pathways like bone formation, collagen type XI, and chondrocyte development.
- Meta-analysis of DDH and hip OA uncovered five novel signals for hip osteoarthritis, enhancing understanding of their genetic relationship.