Polymorphisms in the growth differentiation factor 5 [GDF 5] gene in knee osteoarthritis

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

Recurrent pregnancy loss and association with anti phospho lipid syndrome

Recurrent miscarriage, the occurrence of three consecutive first-trimester losses of pregnancy, affects 1-3% of pregnant women. The purported causes of recurrent miscarriage include chromosomal abnormalities, thrombophilia, metabolic disorders, anatomical and immunological disturbances. At present, the only recommended investigations are testing for lupus anticoagulant and anticardiolipin antibody levels to diagnose the antiphospholipid syndrome, an acquired thrombophilia and the karyotyping of both parents for chromosomal abnormalities. The Antiphospholipid Syndrome [APS] is an autoimmune disorder characterized by thrombosis, recurrent loss of pregnancy combined with laboratory tests that indicate the presence of antibodies against phospholipid binding proteins. Clinically relevant antiphospholipid antibodies are mainly anticardiolipin antibodies detected by enzyme linked immuno sorbent assay [ELISA] and lupus anticoagulants demonstrated by in vitro coagulation assay. Women with antiphospholipid syndrome should be offered treatment with aspirin and low subcutaneous heparin. We aimed to summarize current concepts on diagnosis and treatment in recurrent loss of pregnancies and APS