medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-324Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHИсследование ассоциаций полиморфных вариантов генов MnSOD, GPx и TР53 с частотами хромосомных аберраций в лимфоцитах человека при длительном воздействии радонаStudying of association of MnSOD, GPx and TP53 genes polymorphism with frequencies of chromosomal aberrations in human lymphocytes under long-term radon exposureЛарионовА. В.LarionovA. V.alekseylarionov09@gmail.comСоболеваО. А.SobolevaO. A.noemail@neicon.ruМининаВ. И.MininaV. I.noemail@neicon.ruТимофееваА. А.TimofeevaA. A.noemail@neicon.ruГоловинаТ. А.GolovinaT. A.noemail@neicon.ruДружининВ. Г.DruzhininV. G.noemail@neicon.ruКемеровский государственный университетРоссияKemerovo State UniversityRussian FederationФедеральный Исследовательский Центр Угля и Углехимии СО РАНРоссияFederal Research Center for Coal and Coal ChemistryRussian FederationКемеровский государственный университет; Федеральный Исследовательский Центр Угля и Углехимии СО РАНРоссияKemerovo State University; Federal Research Center for Coal and Coal ChemistryRussian Federation2017200220181691624Copyright © Ларионов А.В., Соболева О.А., Минина В.И., Тимофеева А.А., Головина Т.А., Дружинин В.Г., 20182018Ларионов А.В., Соболева О.А., Минина В.И., Тимофеева А.А., Головина Т.А., Дружинин В.Г.Larionov A.V., Soboleva O.A., Minina V.I., Timofeeva A.A., Golovina T.A., Druzhinin V.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/324

Актуальность. Ионизирующее излучение радона помимо прямого эффекта, вызывает также непрямое повреждение ДНК, вызванное окислительным стрессом в результате действия продуктов радиолиза воды. Можно предположить важную роль генов антиоксидантного ответа в развитии повреждений ДНК, включая такие признанные биомаркеры генотоксических и канцерогенных воздействий как хромосомные аберрации. Цель. Исследование связи полиморфных вариантов 3 генов защитных систем: MnSOD , GPx , Tp53 с частотой хромосомных аберраций в лимфоцитах крови детей-подростков, длительно проживающих в условиях сверхнормативной экспозиции плотноионизирующим излучением радона. Материалы и методы. Генотипированы 3 однонуклеотидных замены в генах: MnSOD 47C>T (rs4880), GPx 599 C>T (rs1050450), Tp53 215 G>C (rs1042522), у подростков длительное время экспонированных радоном в повышенной концентрации (более 200 Бк/м3). Генотипирование проводилось методом real-time ПЦР с использованием технологии конкурирующих TaqMan-зондов. Расчет частоты хромосомных аберраций проводился методом световой микроскопии. Результаты. Анализ ROC-кривых построенных по результатам генотипирования генов GPx и Tp53 позволил определить их как возможные «удовлетворительные» предикторы, ассоциированные с повышением показателя доли аберрантных метафаз: вариант GPx T, rs1050450 (AUC = 0,603, p = 0,04) в рецессивной модели, и вариант Tp53 С, rs1042522 (AUC = 0,634, p = 0,03) также в рецессивной модели. Выводы. Однонуклеотидные вариации GPx T, rs1050450 и Tp53 С, rs1042522 могут быть связаны с увеличением риска повреждений ДНК в условиях длительного радиационного низкодозового воздействия.

Relevance. Ionizing radon radiation besides the direct effect, also leads to indirect DNA damage caused by oxidative stress as a result of the action of water radiolysis products. It can be assumed the important role of antioxidant response genes in the development of DNA damage, including such recognized biomarkers of genotoxic and carcinogenic effects as chromosomal aberrations. Goal. To study association of polymorphic variants of 3 protective genes: MnSOD, GPx, Tp53 with the frequency of chromosomal aberrations in blood lymphocytes of adolescents who live for a long time under exposure by excessive level of high-LET radon radiation. Materials and methods. Three single-nucleotide variations in genes were genotyped: MnSOD 47C> T (rs4880), GPx 599 C> T (rs1050450), Tp53 215 G> C (rs1042522), in a group of people exposed for extended periods of exposure to radon in elevated concentrations (> 200 Bq/m3). Genotyping was carried out using the real-time PCR method using the technology of competing TaqMan probes. The frequency of chromosome aberrations was calculated by light microscopy. Results. ROC curves analysis obtained by results of genotyping of GPx and Tp53 genes, made it possible to identify this genes as possible «satisfactory» predictors associated with an increase in the proportion of aberrant metaphases: the hereditary variant GPx T, rs1050450 (AUC = 0.603, p = 0.04) in the recessive model, and variant Tp53 C, rs1042522 (AUC = 0.634, p = 0.03) also in the recessive model. Conclusions. Single-nucleotide variations in genes GPx T, rs1050450 and Tp53 C, rs1042522 may be associated with an increased risk of DNA damage in conditions of prolonged radiation low-dose exposure.

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The authors declare that there are no conflicts of interest present.