Analysis of associations of candidate genes polymorphism with the development of knee osteoarthritis in obese patients

Background. Knee Osteoarthritis (OA) is a chronic disease with multifactorial pathogenesis. Risk factors for developing knee OA include age, genetic predisposition, and obesity. The share of genetic factors in the development of the disease accounts for up to 50 %. Despite the obvious association between obesity and knee OA, studies that reveal the role of genetic factors in the development of the disease in the interaction with obesity or overweight are extremely limited. The aim of the study: To study the association of candidate genes polymorphic loci GDF5 (rs143384), NFAT5 (rs6499244), WWP2 (rs34195470), SBNO1 (rs1060105, rs56116847) with the development of knee OA in patients with obesity. Materials and methods. The sample for the study included 322 obese individuals: 255 patients with OA of the knee and 67 people in the control group. Genotyping of DNA samples from all study participants was performed using standard real-time PCR on CFX96 amplifier (USA). Associations of genetic markers with knee OA in obese patients were assessed using the odds ratio and 95 % confidence interval. Results. Analysis of the associations of the studied polymorphic loci with the development of knee OA in obese patients revealed significant differences only for the GDF5 (rs143384) gene polymorphism. It was established that the frequency of the G/G genotype rs143384 in obese knee OA patients was 14.12 %, which is 1.8 times less compared to the control (25.36 %, p = 0.043, OR = 0.48). Conclusions. The modifying role of obesity on the nature of the rs143384 polymorphic marker GDF5 gene associations with the developing knee OA in the population of the Russia Central Chernozem Region was shown. The G/G genotype rs143384 was found to be a protective factor in the development of knee OA in obese patients.