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Genetic associations of surfactant protein D and angiotensin-converting enzyme with lung disease in preterm neonates
Journal article   Open access   Peer reviewed

Genetic associations of surfactant protein D and angiotensin-converting enzyme with lung disease in preterm neonates

K K Ryckman, J M Dagle, K Kelsey, A M Momany and J C Murray
Journal of perinatology, Vol.32(5), pp.349-355
05/2012
DOI: 10.1038/jp.2011.104
PMCID: PMC3370386
PMID: 21960125
url
https://www.ncbi.nlm.nih.gov/pmc/articles/3370386View
Open Access

Abstract

To replicate genetic associations with respiratory distress syndrome (RDS) and bronchopulmonary dysplasia (BPD) in genes related to surfactant deficiency, inflammation and infection, and the renin-angiotensin system. We examined eight candidate genes for associations with RDS and BPD in 433 preterm birth (PTB-<37 weeks) infants (251 with RDS and 134 with BPD). Both case-control and family-based analyses were performed in preterm (<37 weeks) and very preterm birth (VPTB-<32 weeks) infants. We replicated a previous finding that rs1923537, a marker downstream of surfactant protein D (SFTPD) is associated with RDS in VPTB infants in that the T allele was overtransmitted from parents to offspring with RDS (P=8.4 × 10(-3)). We also observed the A allele of rs4351 in the angiotensin-converting enzyme (ACE) gene was overtransmitted from parents to VPTB offspring with BPD (P=9.8 × 10(-3)). These results give further insight into the genetic risk factors for complex neonatal respiratory diseases and provide more evidence of the importance of SFTPD and ACE in the etiology of RDS and BPD, respectively.
Genetic Testing Prognosis Humans Respiratory Distress Syndrome, Newborn - epidemiology Male Neonatal Screening Incidence Bronchopulmonary Dysplasia - epidemiology Peptidyl-Dipeptidase A - genetics Bronchopulmonary Dysplasia - genetics Intensive Care Units, Neonatal DNA - analysis Gene Expression Regulation, Developmental Respiratory Distress Syndrome, Newborn - genetics Female Retrospective Studies Infant, Newborn Genetic Predisposition to Disease Respiratory Distress Syndrome, Newborn - diagnosis Risk Assessment Renin-Angiotensin System - genetics Renin-Angiotensin System - physiology Survival Rate Gestational Age Pulmonary Surfactant-Associated Protein D - genetics DNA - genetics Pregnancy Bronchopulmonary Dysplasia - diagnosis Infant, Premature Alleles Sex Distribution Polymorphism, Single Nucleotide Cohort Studies

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