Affiliation:
1. Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
2. Clinical Maternity Hospital of Minsk Region;
Belarusian Medical Academy of Postgraduate Education
3. Belarusian Medical Academy of Postgraduate Education
Abstract
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.
Publisher
Publishing House Belorusskaya Nauka
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