Background: - Some premature babies develop bronchopulmonary dysplasia (BPD) and retinopathy of prematurity (ROP). BPD and ROP are long-term chronic diseases of the lungs and eyes, respectively. BPD is associated with receiving mechanical ventilation to treat respiratory distress syndrome, and causes lung inflammation and scarring. ROP is caused by poor development of blood vessels in the eyes, and may lead to blindness. Because not all premature babies develop BPD or ROP, researchers want to study the genes that could be associated with these diseases. They will look at both premature infants and their parents to see if there is a genetic component to BPD and ROP. Objectives: - To study genes that may be associated with BPD and ROP. Eligibility: - Premature babies born with a weight less than or equal to 1,250 grams. - Parents of the premature babies. Design: - Parents will answer questions about the mother s health and pregnancy. - Delivery and medical information will be collected during the baby s hospitalization for the first month after birth. - Parents will provide a saliva sample from the inside of the cheek. - A saliva sample will also be collected from the baby within 28 days of birth. If the baby needs tracheal aspiration (removal of fluid from the throat), tracheal fluid samples will also be collected. - Parents will have followup interviews about their child s health 6 months, 12 months, and yearly for up to 6 years after birth. - This is a genetic study only. Treatment will not be provided as part of this study.

Population

Participants will be recruited irrespective of gender, ethnicity, race, or socio-economic status. Parents and premature newborns with a birth weight less than or equal to1250 g from member institutions of the hospital network will be invited to participate in this study.@@@

Brief Title

Genes Associated With Bronchopulmonary Dysplasia and Retinopathy of Prematurity

Official Title

Candidate Genes Associated With Susceptibility to Bronchopulmonary Dysplasia and Retinopathy of Prematurity

Brief Summary

Background:<br /><br /> - Some premature babies develop bronchopulmonary dysplasia (BPD) and retinopathy of<br /> prematurity (ROP). BPD and ROP are long-term chronic diseases of the lungs and eyes,<br /> respectively. BPD is associated with receiving mechanical ventilation to treat respiratory<br /> distress syndrome, and causes lung inflammation and scarring. ROP is caused by poor<br /> development of blood vessels in the eyes, and may lead to blindness. Because not all<br /> premature babies develop BPD or ROP, researchers want to study the genes that could be<br /> associated with these diseases. They will look at both premature infants and their parents to<br /> see if there is a genetic component to BPD and ROP.<br /><br /> Objectives:<br /><br /> - To study genes that may be associated with BPD and ROP.<br /><br /> Eligibility:<br /><br /> - Premature babies born with a weight less than or equal to 1,250 grams.<br /><br /> - Parents of the premature babies.<br /><br /> Design:<br /><br /> - Parents will answer questions about the mother s health and pregnancy.<br /><br /> - Delivery and medical information will be collected during the baby s hospitalization for<br /> the first month after birth.<br /><br /> - Parents will provide a saliva sample from the inside of the cheek.<br /><br /> - A saliva sample will also be collected from the baby within 28 days of birth. If the<br /> baby needs tracheal aspiration (removal of fluid from the throat), tracheal fluid<br /> samples will also be collected.<br /><br /> - Parents will have followup interviews about their child s health 6 months, 12 months,<br /> and yearly for up to 6 years after birth.<br /><br /> - This is a genetic study only. Treatment will not be provided as part of this study.

Detailed Description

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.