ABSTRACT
Objective: to identify the frequency of the rs143383 SNP in the GDF5 gene, which is located in the 5'-untranslated region of Turkish population with knee osteoarthritis [OA]
Study Design: a case-control study
Place and Duration of Study: orthopedics and Traumatology Department, Bozok University Medical Faculty, Yozgat, Turkey, from 2012 to 2014
Methodology: patients diagnosed with OA [n=94] and patients who did not have joint complaints [n=279] were enrolled in this study. Patients diagnosed with osteoarthritis according to the 1986 American College of Rheumatology osteoarthritis criteria and Kellgren and Lawrence scores were investigated, based on age, gender, and X-ray findings. Blood samples were taken for the identification of GDF5 [rs143383] SNPs by PCR/RFLP, according to a standard protocol
Results: this study included 373 patients. The OA group [25.2%; n=94] was characterized by specific genotypes: TT [39.4%; n=37]; heterozygotes [TC; 45.7%; n=43]; and homozygotes [CC; 14.9%; n=14]. The control group [74.8%; n=279] was comprised of TT [26.5%; n=74], TC [54.8%; n=153], and CC [18.6%; n=52] genotypes. An analysis of rs143383 SNP of the GDF5 gene polymorphism revealed that the rs143383 TT genotype had a higher risk for OA [crude OR=1.798, 95% CI=1.010-2.941, p=0.021]
Conclusion: this study demonstrated that there is a correlation of +104T/C polymorphism in the 5'-UTR of GDF5 with knee OA in a Turkish population