GDF5 rs143384 Polymorphism Associated with Developmental Dysplasia of the Hip in Brazilian Patients: A Case-Control Study

Developmental dysplasia of the hip (DDH) is a multifactorial and polygenic abnormal hip joint development, with a prognosis influenced by environmental and genetic factors, potentially leading to complete dislocation. Growth differentiation factor 5 is a signaling molecule, encoded by a polymorphic gene (<i>GDF5</i>), promoting the development, repair, and maintenance of bone, cartilage, and other synovial joint tissues. The <i>GDF5</i> rs143384 G>A polymorphism affects GDF5 expression and may be associated with a susceptibility to DDH. The aim of this study was to determine the frequency of the <i>GDF5</i> rs143384 polymorphism in Brazilian individuals and its influence on the development of DDH. This case-control study included 50 DDH cases and 150 controls without hip disease. Genotyping was performed by real-time PCR using the TaqMan system. The <i>GDF5</i> AA variant genotype frequency was significantly higher in DDH cases (32%) compared to controls (14%, <i>p</i>-value = 0.01) and showed a marginal association with disease risk (OR = 1.47; CI 95% = 0.96-2.26). The <i>GDF5</i> rs143384 polymorphism could be useful in identifying individuals at risk, guiding personalized treatment strategies, and contributing to diagnosis and clinical management.