characterization of lepr gene Q223R (RS1137101) genotypes in patients with knee joint osteoarthritis of different radiographic stages

Abstract

Objective: Introduction: Osteoarthritis is a multifactorial joint disease with a significant role of the genetic factor. The numerous studies have demonstrated that genetic dependence is specific for individual hand, hip and knee regions with a genetic contribution to the pathogenesis of osteoarthrosis varying from 40% to 65%. To assess the role of leptin gene receptor functional activity disturbance in the pathogenesis of osteoarthrosis, it is important to study the relationship between the LEPR gene polymorphism and a number of clinical and laboratory parameters. The study objective was to determine the relationship between the LEPR gene Q223R (rs1137101) polymorphism and the radiographic stage of osteoarthrosis of the knee in female patients of the Ukrainian population.

Patients and methods: Materials and methods: The rs1137101 polymorphism was genotyped in 99 female patients diagnosed with osteoarthrosis of the knee using polymerase chain reaction in a real-time mode.

Results: Results: It was a tendency of lower prevalence of AA homozygotes and higher prevalence of AG heterozygotes with growing the severity of the disease. The high prevalence of homozygous carriers of the variant allele G in radiographic Stage I patients preconditioned the absence of statistically significant differences in the distribution of genotypes between the groups.

Conclusion: Conclusion: No statistically significant differences in the distribution of prevalence of alleles and LEPR gene Q223R (rs1137101) genotypes in the groups of patients with the knee OA of different radiographic stages have been revealed.

Keywords: LEPR; knee joint osteoarthritis; radiographic stage; rs1137101.