The role of intragenic and intergenic combinations of SFTPB and SFTPC gene polymorphisms in the pathogenesis of respiratory distress syndrome and bronchopulmonary dysplasia in preterm newborns
https://doi.org/10.29235/1561-8323-2025-69-4-296-302
Abstract
Genetic polymorphisms of surfactant proteins SP-B and SP-C may contribute to the development of respiratory disorders among preterm newborns. The aim of this study was to analyze the contribution of intergenic and intragenic combinations of SFTPB and SFTPC genotypes to the pathogenesis of respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) in preterm infants. A total of 567 newborns were genotyped for the polymorphic loci rs2077079 and rs1130866 of the SFTPB gene as well as rs4715, rs1124, and rs2070687 of the SFTPC gene using real-time PCR with TaqMan probes and Sanger sequencing. In preterm girls, the risk of RDS was significantly higher in those carrying the genotype combinations –18CCSFTPB/413CASFTPC and –18CCSFTPB/436-8CGSFTPC (p = 0.044 and p = 0.03, respectively). The 1580СТSFTPB/ 557ААSFTPC combination was associated with severe RDS regardless of sex (p = 0.019). Among girls, RDS severity was linked to –18CASFTPB/557CCSFTPC and 1580CT/–18CA SFTPB combinations ( p = 0.018 and p = 0.033, respectively), while in boys, the 1580TTSFTPB/413CCSFTPC combination was associated with more severe disease (p = 0.03). In preterm infants with a gestational age of 28–34 weeks, the risk of BPD was associated with the 1580СТSFTPB/413ССSFTPC genotype combination ( p = 0.031). Thus, specific intergenic and intragenic combinations of SFTPB and SFTPC gene polymorphisms are significantly associated with the risk and severity of RDS and BPD in preterm newborns.
About the Authors
V. M. Malyshava
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
Malyshava Volha M. – Researcher
27, Akademicheskaya Str., 220072, Minsk
A. P. Mikhalenka
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
Mikhalenka Alena P. – Ph. D. (Biology), Leading Re- searcher
27, Akademicheskaya Str., 220072, Minsk
A. P. Suharava
Clinical Maternity Hospital of Minsk Region
Belarus
Belarus
Suharava Anastasiya P. – Neonatologist, Head of the Department
16, F. Skoriny Str., 220114, Minsk
М. V. Artsiusheuskaya
Belarusian State Medical University
Belarus
Belarus
Artsiusheuskaya Maryna V. – Ph. D. (Medicine), Assistant of the Department
3/3, P. Brovka Str., 220013, Minsk
A. V. Kilchevsky
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
Belarus
Belarus
Kilchevsky Aleksandr V. – Academician, D. Sc. (Biology), Professor, Scientific Head of the Laboratory
27, Akademicheskaya Str., 220072, Minsk
References
1. Chistyakova G. N., Remizova I. I., Kadochnikova P. A., Abakarova D. A., Grishkina A. A. Risk factors and structure of mortidity in premature newborns with fatal outcome. Mat’ i ditya v Kuzbasse [Mother and child in Kuzbass], 2024, no. 2, pp. 79–87 (in Russian) https://doi.org/10.24412/2686-7338-2024-2-79-87
2. Amatya S., Ye M., Yang L., Gandhi C. K., Wu R., Nagourney B., Floros J. Single nucleotide polymorphisms interactions of the surfactant protein genes associated with respiratory distress syndrome susceptibility in preterm infants. Frontiers in Pediatrics, 2022, vol. 9. https://doi.org/10.3389/fped.2021.682160
3. Bush D., Juliano C., Bowler S., Tiozzo C. Development and disorders of the airway in bronchopulmonary dysplasia. Children (Basel), 2023, vol. 10, no. 7, art. 1127. https://doi.org/10.3390/children10071127
4. Magnani J. E., Donn S. M. Persistent respiratory distress in the term neonate: genetic surfactant deficiency diseases. Current Pediatric Reviews, 2020, vol. 16, no 1, pp. 17–25. https://doi.org/10.2174/1573396315666190723112916
5. Ruan T., Lu W., Zeng S., Yue Y., Zhou R., Ying J., Tang Y., Qu Y., Mu D. Cumulative evidence of the genetic association between SP-B C1580T polymorphisms and risk of neonatal respiratory distress syndrome. Journal of Maternal-Fetal and Neonatal Medicine, 2023, vol. 36, no. 2. https://doi.org/10.1080/14767058.2023.2240469
6. Malyshava V. M., Mikhalenka A. P., Suharava A. P., Artsiusheuskaya M. V., Gomolko K. A., Kilchevsky A. V. Genetic polymorphism of SP-B and SP-C surfactant proteins in preterm infants with respiratory complications. Doklady Natsional’noi akademii nauk Belarusi = Doklady of the National Academy of Sciences of Belarus, 2022, vol. 66, no. 2, pp. 187–194 (in Russian). https://doi.org/10.29235/1561-8323-2022-66-2-187-194
7. Lin Z., Thorenoor N., Wu R., DiAngelo S. L., Ye M., Thomas N. J., Liao X., Lin T. R., Warren S., Floros J. Genetic association of pulmonary surfactant protein genes, SFTPA1, SFTPA2, SFTPB, SFTPC, and SFTPD with cystic fibrosis. Frontiers in Immunology, 2018, vol. 9, pp. 1–17. https://doi.org/10.3389/fimmu.2018.02256
8. Gandhi C. K., Thomas N. J., Meixia Y., Spear D., Fu C., Zhou S., Wu R.., Keim G., Yehya N., Floros J. SNP-SNP interactions of surfactant protein genes in persistent respiratory morbidity susceptibility in previously healthy children. Frontiers in Genetics, 2022, vol. 13. https://doi.org/10.3389/fgene.2022.815727
9. Ovsyannikov D. Yu., Geppe N. A., Malakhov A. B., Degtyarev D. N. Bronchopulmonary dysplasia. Moscow, 2020. 176 p. (in Russian)
10. Hallman M., Marttila R., Pertile R., Ojaniemi M., Haataja R. Genes and environment in common neonatal lung disease. Neonatology, 2007, vol. 91, no. 4, pp. 298–302. https://doi.org/10.1159/000101345
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