cardiovascularКардиоваскулярная терапия и профилактикаCardiovascular Therapy and Prevention1728-88002619-0125«SILICEA-POLIGRAF» LLC10.15829/1728-8800-2023-3368cardiovascular-3368Research ArticleГЕНЕТИКА В КАРДИОЛОГИИGENETICS IN CARDIOLOGYРоль межгенных взаимодействий между генами цитокинов и Toll-подобных рецепторов в этиологии врожденных пороков сердцаRole of intergenic interactions between cytokine and Toll-like receptor genes in the etiology of congenital heart defectshttps://orcid.org/0000-0002-8785-7896ШабалдинА. В.ShabaldinA. V.

Шабалдин Андрей Владимирович — доктор медицинских наук, доцент, ведущий научный сотрудник лаборатории пороков сердца

Кемерово

Kemerovo

weit2007@yandex.ruhttps://orcid.org/0000-0002-7316-2962ШмулевичС. А.ShmulevichS. A.

Шмулевич Светлана Александровна — кандидат медицинских наук, старший преподаватель научно-образовательного отдела

Кемерово

Kemerovo

shmusa@kemcardio.ruhttps://orcid.org/0000-0002-4467-8732СиницкаяА. В.SinitskayaA. V.

Синицкая Анна Викторовна — кандидат биологических наук, научный сотрудник лаборатории геномной медицины

Кемерово

Kemerovo

cepoav1991@gmail.comhttps://orcid.org/0000-0003-4822-4794ЗамараевР. Ю.ZamaraevR. Yu.

Замараев Роман Юрьевич — кандидат технических наук, старший научный сотрудник

Кемерово

Kemerovo

zamaraev@ict.sbras.ruФГБНУ "Научно-исследовательский институт комплексных проблем сердечно-сосудистых заболеваний"Research Institute for Complex Issues of Cardiovascular DiseasesКемеровский филиал Федерального исследовательского центра информационных и вычислительных технологийKemerovo Branch of the Federal Research Center for Information and Computational Technologies20230601202322233683368Copyright © Шабалдин А.В., Шмулевич С.А., Синицкая А.В., Замараев Р.Ю., 20232023Шабалдин А.В., Шмулевич С.А., Синицкая А.В., Замараев Р.Ю.Shabaldin A.V., Shmulevich S.A., Sinitskaya A.V., Zamaraev R.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://cardiovascular.elpub.ru/jour/article/view/3368

Частота встречаемости врожденных пороков сердца (ВПС) достигает 1% от всех новорожденных детей. Особое значение имеет группа пороков сердца без семейной истории и хромосомных заболеваний, которая составляет >80% из всех ВПС. Эти пороки сердца можно обозначить как спорадические ВПС, их этиология и патогенез продолжают изучаться.

Цель

Цель. Изучить ассоциативные связи между генами цитокинов, Toll- подобных рецепторов (TLR) и ВПС у детей.

Материал и методы

Материал и методы. Обследовано 188 детей со спорадическими (без семейной истории) ВПС (основная группа) и 103 условно здоровых детей без ВПС (контрольная группа). Генотипирование проводили методом полимеразной цепной реакции (ПЦР) в режиме реального времени.

Результаты

Результаты. Спорадические ВПС, в целом, и септальные ВПС, в частности, формируются на схожих межгенных ассоциациях, которые детерминируют нарушение регуляции пролиферации и дифференцировки прогениторных клеток сердечно-сосудистой системы. Вероятно, одним из молекулярных механизмов формирования спорадических септальных ВПС может быть неэффективность внутриклеточных сигнальных путей до NF-κB (Nuclear Factor kappa B) из-за первичного дефицита мембранных гетеродимеров TLR1/ TLR6, TLR2/TLR6 и TLR1/TLR2.

Заключение

Заключение. Данные об измененном провоспалительном потенциале в группе спорадических септальных ВПС необходимо учитывать в постнатальном периоде при проведении кардиохирургического лечения этих нозологий.

 

 

The incidence of congenital heart defects (CHDs) reaches 1% of all newborns. Of particular importance is the group of heart defects without a family history and chromosomal disorders, which makes up>80% of all CHDs. These heart defects can be designated as sporadic CHDs, and their etiology and pathogenesis continue to be studied.

Aim

Aim. To study the association of cytokine and Toll-like receptor (TLR) genes with CHDs in children.

Material and methods

Material and methods. We examined 188 children with sporadic (without family history) CHDs (main group) and 103 healthy children without CHDs (control group). Genotyping was performed by real-time polymerase chain reaction (PCR).

Results

Results. Sporadic CHDs, in general, and septal CHDs, in particular, are formed on similar intergenic associations that determine the dysregulation of the proliferation and differentiation of progenitor cells of the cardiovascular system. Probably, one of the molecular mechanisms for sporadic septal CHDs may be the inefficiency of intracellular signaling pathways for Nuclear Factor kappa B (NF-κB) due to the primary deficiency of membrane heterodimers TLR1/TLR6, TLR2/TLR6, and TLR1/TLR2.

Conclusion

Conclusion. Data on altered proinflammatory potential in the group of sporadic septal CHDs should be taken into account in the postnatal period when conducting cardiac surgery.

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