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

Year: 2025

Type: article

Abstract: 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 (GDF5), promoting the development, repair, and maintenance of bone, cartilage, and other synovial joint tissues. The GDF5 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 GDF5 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 GDF5 AA variant genotype frequency was significantly higher in DDH cases (32%) compared to controls (14%, p-value = 0.01) and showed a marginal association with disease risk (OR = 1.47; CI 95% = 0.96–2.26). The GDF5 rs143384 polymorphism could be useful in identifying individuals at risk, guiding personalized treatment strategies, and contributing to diagnosis and clinical management.

Source: International Journal of Molecular Sciences

DOI: 10.3390/ijms26115012