danДоклады Национальной академии наук БеларусиDoklady of the National Academy of Sciences of Belarus1561-83232524-2431The Republican Unitary Enterprise Publishing House "Belaruskaya Navuka"10.29235/1561-8323-2022-66-2-187-194dan-1053Research ArticleБИОЛОГИЯBIOLOGYГенетический полиморфизм белков сурфактанта SP-B и SP-C у недоношенных новорожденных с дыхательными осложнениямиGenetic polymorphism of SP-B and SP-C surfactant proteins in preterm infants with respiratory complicationsМалышеваО. М.MalyshavaV. M.

Малышева Ольга Михайловна – младший научный сотрудник

ул. Академическая, 27, 220072, Минск

Malyshava Volha M. – Junior Researcher

27, Akademicheskaya Str., 220072

O.Malysheva@igc.byМихаленкоЕ. П.MikhalenkaA. P.

Михаленко Елена Петровна – кандидат биологических наук, ведущий научный сотрудник

ул. Академическая, 27, 220072, Минск

Mikhalenka Alena P. – Ph. D. (Biology), Leading Researcher

27, Akademicheskaya Str., 220072

E.Michalenko@igc.byСухареваА. П.SuharavaA. P.

Сухарева Анастасия Павловна – аспирант. Белорусская медицинская академия последипломного образования; врач-неонатолог. Клинический родильный дом Минской области

ул. П. Бровки, 3/3, 220013, Минск,

ул. Ф. Скорины, 16, 220114, Минск

Suharava Anastasiya P. – Postgraduate Student. Belarusian Medical Academy of Postgraduate Education (3/3, P. Brovka Str., 220013, Minsk, Republic of Belarus); Neonatologist. Clinical Maternity Hospital of Minsk Region

3/3, P. Brovka Str., 220013, Minsk,

16, F. Skorina Str., 220114, Minsk

nstbor@tut.byАртюшевскаяМ. В.ArtsiusheuskayaM. V.

Артюшевская Марина Владимировна – кандидат медицинских наук, ассистент кафедры

ул. П. Бровки, 3/3, 220013, Минск

Artsiusheuskaya Maryna V. – Ph. D. (Medicine), Assistant

3/3, P. Brovka Str., 220013, Minsk

6579542@bk.ruГомолкоК. А.GomolkoK. A.

Гомолко Ксения Александровна – аспирант. Белорусская медицинская академия последипломного образования; врач-неонатолог. Клинический родильный дом Минской области

ул. П. Бровки, 3/3, 220013, Минск,

ул. Ф. Скорины, 16, 220114, Минск

Gomolko Kseniya A. – Postgraduate Student. Belarusian Medical Academy of Postgraduate Education; Neonatologist. Clinical Maternity Hospital of Minsk Region

3/3, P. Brovka Str., 220013, Minsk,

16, F. Skorina Str., 220114, Minsk

kseniagomolko@tut.byКильчевскийА. В.KilchevskyA. V.

Кильчевский Александр Владимирович – академик, доктор биологических наук, профессор, научный руководитель лаборатории

ул. Академическая, 27, 220072, Минск

Kilchevsky Aleksandr V. – Academician, D. Sc. (Biology), Professor, Scientific Head of the Laboratory

27, Akademicheskaya Str., 220072

kilchev@presidium.bas-net.byИнститут генетики и цитологии Национальной академии наук БеларусиInstitute of Genetics and Cytology of the National Academy of Sciences of BelarusКлинический родильный дом Минской области; Белорусская медицинская академия последипломного образованияClinical Maternity Hospital of Minsk Region; Belarusian Medical Academy of Postgraduate EducationБелорусская медицинская академия последипломного образованияBelarusian Medical Academy of Postgraduate Education202206052022662187194Copyright © Малышева О.М., Михаленко Е.П., Сухарева А.П., Артюшевская М.В., Гомолко К.А., Кильчевский А.В., 20222022Малышева О.М., Михаленко Е.П., Сухарева А.П., Артюшевская М.В., Гомолко К.А., Кильчевский А.В.Malyshava V.M., Mikhalenka A.P., Suharava A.P., Artsiusheuskaya M.V., Gomolko K.A., Kilchevsky A.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://doklady.belnauka.by/jour/article/view/1053

Синдром дыхательных расстройств (СДР) и бронхолегочная дисплазия (БЛД) являются заболеваниями легких, возникающими в основном у недоношенных новорожденных. Полиморфные варианты генов сурфактантных белков рассматриваются как кандидаты, вносящие вклад в патогенез СДР и БЛД. Изучена связь 5 полиморфных вариантов гена SFTPB (rs2077079, rs1130866, D2S388, D2S2232, VNTR 4 интрона) и 3 полиморфных замен гена SFTPС (rs4715, rs1124, rs2070687) у недоношенных новорожденных с СДР различной степени тяжести и БЛД. В исследование включены 555 новорожденных, среди которых 313 недоношенных младенцев со сроком гестации 28–36 недель. Генотипирование проводили секвенированием по Сэнгеру, микросателлитным анализом и ПЦР-РВ. Все недоношенные новорожденные характеризовались наличием СДР разной степени тяжести, у 36 новорожденных была выявлена БЛД. Микросателлитный маркер D2S388 гена SFTPB вносит вклад в этиологию СДР и может служить геном его предрасположенности. Аллель 256 п. н. увеличивает риск развития СДР тяжелой степени. В то же время генотип –18AА rs2077079 гена SFTPB ассоциирован с уменьшением риска развития СДР тяжелой степени. Полиморфный вариант c.413С>A p. T138N (rs4715) гена SFTPC ассоциирован с БЛД: генотип 413СС повышает, а генотип 413СА cнижает риск развития заболевания.

The respiratory distress syndrome (RDS) and the bronchopulmonary dysplasia (BPD) are the lung diseases that occur mainly in preterm infants. Polymorphic variants of surfactant protein genes are considered as candidates contributing to the pathogenesis of RDS and BPD. The association of 5 polymorphic variants of the SFTPB gene (rs2077079, rs1130866, D2S388, D2S2232, VNTR 4 introns) and 3 polymorphic substitutions of the SFTPC gene (rs4715, rs1124, rs2070687) in newborns with the development risk and severity of RDS and BPD was studied. 555 newborns were included in the study, among which 313 premature babies with a gestational age of 28–36 weeks. Genotyping was performed by the Sanger sequencing, the microsatellite analysis, and the real-time PCR. All premature newborns were characterized by the presence of RDS of different severity and BPD was detected in 36 newborns. The microsatellite marker D2S388 of the SFTPB gene contributes to the etiology of RDS and may serve as a gene for its predisposition. Allele 256 bp increases the risk of developing severe RDS. At the same time, the –18AA rs2077079 genotype of the SFTPB gene is associated with a reduced risk of developing severe RDS. The polymorphic variant c.413C>A p. T138N (rs4715) of the SFTPC gene is associated with BPD: the 413CC genotype increases, and the 413CA genotype reduces the risk of developing the disease.

 

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