Genetic factors predisposing to bronchopulmonary dysplasia. A pilot study by exome sequencing and pathways analysis

Background Bronchopulmonary Dysplasia (BPD) is a multifactorial disease with a significant
genetic component. Twin studies indicate that heritability of BPD is estimated at 53 to
79%[1]. Association studies have identifiedseveral potential candidate genes encoding
components of innate immune and antioxidant defenses, mechanisms of vascular and lung
remodeling, matrix remodeling proteins, surfactantproteins [2, 3]. We planned a prospective
multicentre study aimedto identify rare genetic variants contributing to the BPD ...