Genetic predictors of vascular complications in adolescents involved in sports

Abstract

Introduction. The urgency of the problem is because the carriage of genetic predictors of thrombogenic risk in adolescents can be a significant factor in the formation of arterial and venous thromboses, leading to disability and even death, especially after significant sports overloads. Materials and methods. DNA genotyping was carried out in 259 boys aged 14 to 17 years who were professionally involved in sports for a long time. The reference group consisted of 228 students who were not additionally involved in sports sections at the age of 14-17 years of I-II health groups. Genetic testing was performed using the Real-Time PCR method using competing TagMan probes. 12 genetic allelic DNA polymorphisms were studied. The analysis of laboratory and instrumental methods of research. The results were statistically processed using the STATISTICA 10.0 software package. Results. Among adolescent athletes, a group of children with a high risk of vascular complications was identified on the basis of the studied thrombogenic DNA polymorphisms and folate metabolism genes. The frequency of the minor C1565 allele of the GPIIIa gene was significantly more often determined in adolescent athletes, while the variant of the minor 4G allele (-675) of the PAI-I gene was significantly more often detected in relatively healthy schoolchildren. The heterozygous genotype 1565 TC of the GPIIIa gene, the heterozygous genotype 1298 of the AC MTHFR gene, and the heterozygous genotype 66 AG of the methionine synthase reductase gene (MTRR) were found to be more pronounced in adolescent athletes. The frequency of associations of 4 (17.4%), 5 (28.6%), 6 (25.8%), 7 (10.8%) and 8 (5.4%) genetic polymorphisms was significantly increased in adolescent athletes, which may have pathogenetic significance. Moreover, in athletes, combinations of C677T polymorphisms of the MTHFR gene, 4G (-675) 5G of the PAI-I gene, G (-455) A of the FGB gene were unfavorable for the implementation of vascular lesions. Conclusion. For the first time, criteria have been formulated for the selection of teenage athletes in the high-risk group for vascular complications, taking into account genetic factors. It has been established that the most informative predictors of the risk of vascular complications are the variants of the GPIIIa T1565C, MTRR A66G genes, and gene gene associations of polymorphisms.

Polymorphic substitutions in folate cycle genes as predictors of hyperhomocysteinemia in children

“…В связи с этим можно полагать, что полиморфные замены в минорных аллелях генах фолатного цикла из поколения в поколение возрастают, что сопровождается накоплением генетического груза, который в совокупности со сниженным уровнем ФК у детей способствует повышению уровня ГЦ в крови. Количественное увеличение мутаций ферментов фолатного цикла, свидетельствующее об усилении генетической нагрузки на современных детей, приводит к повышению содержания ГЦ в крови и может определять снижение качества жизни подростков[19,28]. У 80% обследованных подростков нами выявлено увеличение содержания ГЦ в крови.…”