Background: Osteoarthritis is the most common form of arthritis worldwide. GDF5 is closely related to bone morphgenic protein and the defect in this gene might be correlated to the abnormal joint development.
Objective: To detect GDF5 gene polymorphism in OA Egyptians population and its association with OA severity.
Subjects and methods: A case control study was conducted in Rheumatology and Rehabilitation Department, Zagazig University Hospitals. This study included 195 patients with primary OA and 195 healthy control subjects .They were subjected to full history taking thorough clinical examination and Laboratory investigations included CBC, ESR, CRP, RF, lipid profile. Detection of GDF5 gene polymorphism was performed using PCR RFLP (restriction fragment length polymorphism) technique. Assessment of OA severity was assessed using WOMAC and lequesne index of severity for knee and hip OA and AUSCUAN questionnaire for hand OA and K/L radiological grading of knee OA.
Results: The study showed statistically significant difference between OA patients and control groups regarding genotype frequency of GDF5 gene polymorphism. No statistically significant association between total WOMAC index , lequesne index in OA hip and knee and AUSCUAN questionnaire for hands OA with different genotype of GDF5 .However, TC genotype was higher as compared to patients with TT and CC genotypes .There was a statistically significant association between different GDF5 genotypes and K/L radiological grading of knee OA.
Conclusions: This study revealed a genetic association between GDF5 and primary OA and TC genotype may be associated with more severe and disability of primary OA.