The COL1A1 gene polymorphism effects on the state of the musculoskeletal system and cardiovascular system

Abstract

Introduction . The study of prevalence and association of COL1A1 gene polymorphism with connective tissue dysplasia signs gives the sport doctors a possibility to carry out differential diagnostics of the clinical forms of connective tissue dysplasia for prevention of complications during the training and competitive loads. The aim of research was an improvement of medical supply of the training process of athletes taking into account COL1A1 gene polymorphism effect on the development of connective tissue dysplasia signs. Materials and methods of research. There were examined 85 patients with rs 1800012 COL1A1gene polymorphism. The signs of systemic attraction of connective tissue were detected using anthropometry and somatoscopy. All athletes at the rest state underwent echocardiographic examination. Results of research . The results of the study of prevalence of rs1800012 COL1A1 gene polymorphism indicated the significant abundance of heterozygous GT gene in selected population (67,1 %), at the same time the frequency of homozygous variant on ТТ gene was only 3,5 %. ТТ genotype phenotypically demonstrates itself as dolichostenomelia, joints hypermobility, increase of the spine deformations frequency and as a consequence an increase of the level of connective tissue attraction into dysplastic process what is connected with disorder of connective tissue framework qualitative composition in persons with rs1800012 COL1A1gene polymorphism. An unfavorable ТТ genotype causes an increase of the left ventricle end-diastolic size, increase of aortic bulb diameter and inclination of heart diastolic function. Conclusions . The results of the study of prevalence of rs 1800012 COL1A1 gene polymorphism indicate the significant abundance of heterozygous GT gene in selected population, at the same time at the same time the frequency of homozygous variant on ТТ gene was only 3,5 %. ТТ genotype of rs1800012 COL1A1 gene polymorphism phenotypically demonstrates itself as dolichostenomelia, joints hypermobility, increase of the spine deformations frequency and as a consequence an increase of the level of connective tissue attraction into dysplastic process, changes in the heart and great vessels morphology, myocardium relaxation processes disorder. The presence of hereditary caused connective tissue dysplasia signs in athletes at the different predicted states needs from sport doctors the deep analysis and differentiated diagnostics of the clinical forms for prevention of complications during the training and competitive loads. It is necessary to take it into account at admission and planning the training loads in this kind of athletes