The role of polymorphic markers of the <i>WWP2</i> and <i>GDF5</i> gene in the progression of gonarthrosis in the population of the Central Chernozem region of Russia

Abstract

Introduction. Osteoarthritis (OA) is one of the most common diseases of the musculoskeletal system, in the development and progression of which hereditary (genetic) factors play an important role. Aim. To establish the role of polymorphisms of candidate genes rs1060105 and rs56116847 SBNO1, rs6499244 NFAT5, rs34195470 WWP2, rs143384 GDF5 in the progression of knee OA in the population of the Central Chernozem region of Russia. Materials and methods. The sample for the study, including 500 patients with knee OA, was divided into two groups: group 1 – patients with stages 3–4 of the disease according to J. Kellgren – J. Lawrence (n = 325), group 2 – patients with stage 2 (n = 175). The study was carried out in a case-control design. Genotyping of DNA samples was performed using the polymerase chain reaction method of TaqMan probes. The study of associations of polymorphic genetic loci with the progression of gonarthrosis was carried out by the method of logistic regression, taking into account the corrections – age, sex, BMI.Results. The G/G genotype rs34195470 of the WWP2 gene (OR = 0.62, p = 0.029) has a protective role in the progression of the knee OA, the A/G genotype of the same polymorphism is a risk factor for disease progression (OR = 1.65, p = 0.012). Within the framework of the dominant genetic model, significant associations with the progression of gonarthrosis were established for the allele A rs34195470 of the WWP2 gene (OR = 1.61, p = 0.039, pperm = 0.049) and the allele variant G rs143384 of the GDF 5 gene (OR = 0.59, p = 0.024, pperm = 0.024).Conclusion. Genetic risk factors for the development of OA of the knee joint of 3–4 radiographic stages are the allele A and the hepotype A/G rs34195470 of the WWP2 gene. The genotype G/G rs34195470 of the WWP2 gene and the allele G rs143384 of the GDF5 gene are of protective importance in the progression of the disease in the population of the Central Chernozem Region of the Russian Federation.