A SEARCH FOR MARKERS OF GENETIC SUSCEPTIBILITY TO THE DEVELOPMENT OF JOINT HYPERMOBILITY AND OSTEOARTHRITIS IN PATIENTS FROM THE BASHKORTOSTAN REPUBLIC

DOI: https://doi.org/None

A.V. Tyurin (1,2), R.I. Khusainova (1), L.Z. Lukmanova (2), R.A. Davletshin (2), E.K. Khusnutdinova (1) 1 -Institute of Biochemistry and Genetics, Oktiabrya street, 71, Ufa, 450000, Russian Federation; 2 -Bashkir State Medical University, Lenina street, 3, Ufa, 450000, Russian Federation

Introduction. Osteoartitis (OA) is the polyetiological disease pathogenesis of which is not fully understood. One of the risk factors for osteoarthritis may be connective tissue dysplasia, which is based on genetic defects of cartilage structures. The aim is to study of osteoarthritis and joint hypermobility comorbidity and to assess the role of polymorphic variants of genes COL2A1, MMP1, MMP13 in the development of as well isolated as combined form of osteoarthritis and joint hypermobility in Bashkortostan. Materials and methods. Diagnosis of osteoarthritis was made according to the criteria of the American Association of Rheumatology with radiographic evidence. Joint hypermobility was assessed by using the phenotypic Beighton score. The study of polymorphisms was carried with the use of the polymerase chain reaction and restriction enzyme analysis. Result. At the stage of clinical evaluation it was showed a statistically significant superior share of joint hypermobility in OA patients if compared with women without articular pathology. For women with OA comorbidity and joint hypermobility if compared to isolated OA cases and hypermobility there was typical the predominance of allele *1G (44% and 56,5%, χ2=4,16; p=0,041, OR=2,13; 95%CI 1,35– 3,34), genotype *1G*1G (34,8% and 14%, χ2=4,67; p=0,01, OR=2,13; 95%CI 1,35–3,34) MMP1 gene and allele *C (54,3% and 34,3%, χ2=3,35; p=0,054, OR=1,51; 95%CI 1,01–2,36 ) and genotype *C*C (30,4% and 10,4%, χ2=4,44; p=0,03, OR=2,15; 95%CI 1,13–4,06) COl2A1 gene. In women with isolated joint hypermobility allele *2G (70,4% and 52,7%, χ2=4,35; p=0,036, OR=1,24; 95%CI 0,99–1,54) genes MMP1 was more common, as well as the allele *A (77,5% and 59,3%, χ2=4,44; p=0,03 OR=1,99; 95%CI 1,01–3,9) and genotype *A*A (60% and 32,8%, χ2=4,82; p=0,02, OR=2,35; 95%CI 1,07–5,18) of gene MMP13 if compared with women without hypermobility. Conclusions. MMP1 gene has an influence on the development both of the isolated joint hypermobility and in combination with OA. MMP13 gene affects on the development of isolated joint hypermobility. Polymorphism rs63118460 of COL2A1 gene is associated with the development of comorbidity, whereas polymorpism rs2276455 of this gene fails to play a significant role in the development of pathology of ligamentous apparatus or cartilage.
Keywords: 
joint hypermobility, osteoarthritis, connective tissue dysplasia
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