Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity

Understanding the role of susceptibility genes for risk of BPD and ROP may lead to immediate identification of populations who require personalized medical care, and to the assessment of innovative prophylactic and therapeutic interventions in the future. Our purpose is to establish in our hospital network a prospective cohort of triads composed of premature newborns with a birth weight less than or equal to 1250 g and their parents, to examine the role of candidate susceptibility genes in the development of BPD and ROP. Our hypothesis is that the presence of single-nucleotide polymorphisms in candidate genes is associated with differential susceptibility to BPD and ROP. As an initial model, a loss-of-function substitution at position -617 of the NRF2 promoter region is hypothesized to be associated with a greater risk of severe BPD and prethreshold ROP in premature infants with a birth weight less than or equal to 1250 g.

• INCLUSION CRITERIA:

Premature newborns with a birth weight less than or equal to 1250 g and their parents from the participating institutions that comprise the Fundacion Infant hospital network will be enrolled in this study after signing the informed consent.

Exclusion criteria

Premature newborns with a birth weight less than or equal to 1250 g with cyanotic congenital heart disease, congenital anomalies of the respiratory tract (for example, tracheoesophageal fistula, pulmonary hypoplasia, diaphragmatic hernia), eye malformations, or congenital immunodeficiencies. Newborns from parents (mother and/or father) who used in vitro fertilization products from donor banks will also be excluded from participating in the study.