Nekhanevych О, Zhyliuk V, Logvinenko V, Onul N, Khomiak O
State Establishment "Dnipropetrovsk Medical Academy of Health Ministry of Ukraine", Ukraine.
Georgian Med News. 2018 Sep(282):95-99.
The purpose of the study of the study is an identification of the extension and impact of polymorphism of COL1A1 gene on cardiovascular system and musculoskeletal state of athletes. 85 people in the ages from 9 to 32 (the average age was 23.2±4.3 years) with polymorphisms rs 1800012 of COL1A1 gene were examined during this investigation. With the help of anthropometry and somatoscopy skeletal abnormalities were established. To cardiohemodynamic investigation was used echocardiography. Polymorphisms of COL1A1 gene analysis was done by polymerase chain reaction method. The study results of polymorphism of COL1A1gene rs 1800012 expansion pointed at the critical extension of heterozygous gene GT in the selected for analysis population however heterozygous gene TT is found only with frequency of 3.5%. Associated trait of genotype TT of polymorphisms of COL1A1gene rs 1800012 involves dolichostenomelia, joints' hypermobility, frequency increase of back bone deflection and as a result rising CT exhaustion level in dysplastic process that is corresponded with abnormality of CT skeleton qualitative composition. Functionary unfavorable genotype TT leads to the changes in heart morphology, major vessels and myocardium relaxation process deflection.
本研究的目的是确定COL1A1基因多态性对运动员心血管系统和肌肉骨骼状态的影响范围及程度。在本次调查中,对85名年龄在9至32岁(平均年龄为23.2±4.3岁)的COL1A1基因rs 1800012多态性个体进行了检查。借助人体测量学和体格检查确定骨骼异常情况。使用超声心动图进行心脏血液动力学检查。通过聚合酶链反应方法对COL1A1基因多态性进行分析。COL1A1基因rs 1800012多态性的研究结果表明,在所选分析人群中杂合基因GT显著增加,然而杂合基因TT的出现频率仅为3.5%。COL1A1基因rs 1800012多态性的TT基因型相关特征包括四肢细长、关节活动过度、脊柱侧弯频率增加,以及发育异常过程中结缔组织疲劳水平升高,这与结缔组织骨骼质量组成异常相对应。功能不良的TT基因型会导致心脏形态、大血管和心肌舒张过程发生改变。