The role of polymorphic variants of matrix metalloproteinases genes in the formation of disruption of connective tissue homeostasis and pathology of the musculoskeletal system.

Abstract

A clinical assessment of the presence of osteoarthritis (OA) with various localizations, undifferentiated connective tissue dysplasia (uCTD) and joint hypermobility (JHM) in 484 individuals of both sexes of different age groups was carried out. We searched for associations of 4 polymorphic variants of matrix metalloproteinase genes (rs35068180 (MMP3), rs2252070 (MMP13) ), rs226794 and rs2830585 (ADAMTS5)) with the development of osteoarthrosis as a whole, taking into account the localization of the pathological process, the age of the patients, the ethnic origin of the study groups and the presence of undifferentiated connective tissue dysplasia as a whole and its individual phenotypic markers, as well as in the comorbid state with osteoarthritis was carried out. 158 patients had osteoarthritis, 252 had a symptom complex of uCTD, 92 of them were in the comorbid state with OA. The significance of the polymorphic loci of MMP3, MMP13, ADAMTS5 genes in the formation of the symptom complex of uCTD in general and its individual phenotypes was detected. The polymorphic locus of MMP3 gene was associated with OA in the comorbid state with uCTD. Statistically significant models based on clinical-genetic data using the method of multiple logistic regression, that allow predicting the development of osteoarthrosis of knee, hip joints and polyosteoarthrosis were calculated.