Effect of SFTPD gene rs721917 polymorphism on the course and outcomes of bronchopulmonary dysplasia in children

Background. To date, the study of genetic markers responsible for hereditary predisposition to multifactorial diseases, which include bronchopulmonary dysplasia (BPD) in children, remains one of the priority tasks of predictive pediatrics and medical science in general. Since surfactant protein D (SFTPD) is one of the key regulators of the functions of alveolar macrophages, the pleiotropic effect of SFTPD gene polymorphisms on the pathogenetic mechanisms of implementation, phenotypic features of the course and outcomes of bronchopulmonary dysplasia is currently being studied. Objective. Determination of the effect of the SFTPD gene rs721917 polymorphism on the course and outcomes of BPD in children. Methods. A total of 106 patients with BPD were examined. The gestational age ranged from 25 to 38 weeks (29.3±3.2), birth weight ranged from 732 to 3052 g (1543±280). The control group was represented by 93 preterm infants without BPD. Genetic typing of the SFTPD gene rs721917 polymorphism was carried out by polymerase chain reaction with subsequent restriction analysis. Results. Findings of this study indicate that the SFTPD gene rs721917 polymorphism is associated with the development of BPD in children (χ2c\\c-t\\c-t\\t=6.568; p<0.05; p=0.038; df=2), and the presence of the wild C allele in a homozygous state in the genotype serves as a genetic predictor of chronic lung diseases in children (OR=4.400, CI: 1.833-10.563). Conclusion. The study identified the genetic triggers of BPD and the predictor genotype of the SFTPD gene rs721917 polymorphism for the implementation of chronic lung diseases.

bronchopulmonary dysplasia, children, surfactant, SFTPD gene rs721917 polymorphism