Journal
SEMINARS IN PERINATOLOGY
Volume 47, Issue 6, Pages -Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.semperi.2023.151811
Keywords
Bronchopulmonary dysplasia; Genetics; Infant; Premature; Gene expression; Surfactant proteins; ATP-binding cassette; Sub-family A; Member 3
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Bronchopulmonary dysplasia (BPD) is a disease caused by multiple clinical factors, including lung immaturity, mechanical ventilation, oxidative stress, etc. Genetic factors play a role in the development of BPD, and both common genetic variants and rare gene mutations can affect its course.
Bronchopulmonary dysplasia (BPD) is a multi-factorial disease that results from multiple clinical factors, including lung immaturity, mechanical ventilation, oxidative stress, pulmonary congestion due to increasing cardiac blood shunting, nutritional and immunological factors. Twin studies have indicated that susceptibility to BPD can be strongly inherited in some settings. Studies have reported associations between common genetic variants and BPD in preterm infants. Recent genomic studies have highlighted a potential role for molecular pathways involved in inflammation and lung development in affected infants. Rare mutations in genes encoding the lipid transporter ATP-binding cassette, sub-family A, member 3 (ABCA3 gene) which is involved in surfactant synthesis in alveolar type II cells, as well as surfactant protein B (SFTPB) and C (SFTPC) can also result in severe form of neonatal-onset interstitial lung diseases and may also potentially affect the course of BPD. This chapter summarizes the current state of knowledge on the genetics of BPD.
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