perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2020-65-3-39-43perinatology-1148Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESАнализ взаимосвязей генов GSTP1, CYP1A1, CYP1A2 у детей с врожденными пороками сердцаAnalysis of the interconnection of the GSTP1, CYP1A2, CYP1A1 genes in children with congenital heart diseaseshttps://orcid.org/0000-0002-4467-8732ЦепокинаА. В.TsepokinaA. V.

Цепокина Анна Викторовна – мл. науч. сотр. лаборатории геномной медицины отдела экспериментальной и клинической кардиологии

650002 Кемерово, Сосновый бульвар, д. 6

cepoav1991@gmail.comhttps://orcid.org/0000-0002-3002-2863ПонасенкоА. В.PonasenkoA. V.

Понасенко Анастасия Валериевна – к.м.н., зав. лабораторией геномной медицины отдела экспериментальной и клинической кардиологии

650002 Кемерово, Сосновый бульвар, д. 6

https://orcid.org/0000-0002-8785-7896ШабалдинА. В.ShabaldinA. V.

Шабалдин Андрей Владимирович – д.м.н., вед. науч. сотр. лаборатории клеточных технологий отдела экспериментальной и клинической кардиологии

650002 Кемерово, Сосновый бульвар, д. 6

ФГБНУ «Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний»РоссияScientific Research Institute for Complex Issues of Cardiovascular DiseasesRussian Federation2020070720206533943Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20202020Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1148

В статье представлены данные об изучении связей между генами, отвечающими за детоксикацию ксенобиотиков в различные фазы.

Материалы и методы

Материалы и методы. В исследование вошел 131 ребенок с диагнозом врожденного порока сердца и 103 условно здоровых ребенка. Генотипирование осуществляли с помощью метода полимеразной цепной реакции в реальном времени (realtime- ПЦР) с использованием TaqMan зондов. Анализ межгенных связей проводили в программе MDR v.3.0.2.

Результаты и выводы

Результаты и выводы. Анализ частоты генотипов у детей с врожденным пороком сердца и условно-здоровых доноров не выявил статистически значимых различий. Анализ межгенных взаимодействий позволил впервые разработать пятилокусную модель, обладающую наибольшими воспроизводимостью, чувствительностью и специфичностью: GSTP1 rs1793068 – GSTP1 rs6591256 – GSTP1 rs1871042 – CYP1A1 rs1048943 – CYP1A2 rs762551. Данная модель дала возможность определить ряд протективных и рисковых сочетаний генотипов, связанных с предрасположенностью к развитию врожденных пороков сердца у детей.

The article presents data on the study of gene interconnections between the xenobiotics detoxification genes in various phases.

Materials and methods

Materials and methods. The study involves 131 children with congenital heart diseases (CHD) and 103 conditionally healthy children. The genotyping was performed by RT-PCR method using TaqMan probes. Intergenic bonds were analyzed via MDR v.3.0.2.

Results and conclusion

Results and conclusion. We discovered no statistically significant differences in the genotype distribution in children with CHD and conditionally healthy donors. The analysis of intergenic interactions helped to develop a five-locus model characterized by the highest reproducibility, sensitivity and specificity: GSTP1 rs1793068 – GSTP1 rs6591256 – GSTP1 rs1871042 – CYP1A1 rs1048943 – CYP1A2 rs762551. This model was used to determine a number of protective and risky combinations of congenital heart defects-associated genotypes in children.

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