Journal article
Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn
Pediatric research, Vol.71(2), pp.162-167
02/2012
DOI: 10.1038/pr.2011.24
PMCID: PMC3718388
PMID: 22258127
Abstract
Persistent pulmonary hypertension of the newborn (PPHN) is associated with substantial infant morbidity and mortality. Recently, genetic associations have been found in idiopathic pulmonary arterial hypertension.
PPHN was significantly (P < 0.05) associated with genetic variants in corticotropin-releasing hormone (CRH) receptor 1, CRHR1 and CRH-binding protein, CRHBP. Association with CRHR1 rs4458044 passed the Bonferroni threshold for significance. No mutations were found in the bone morphogenetic protein receptor type II (BMPR2) gene.
We describe previously unreported genetic associations between PPHN and CRHR1 and CRHBP. These findings may have implications for further understanding the pathophysiology of PPHN and treatment.
We performed a family-based candidate gene study to examine a genetic association with PPHN and sequenced the BMPR2 gene in 72 individuals. We enrolled 110 families with infants diagnosed with PPHN based on inclusion criteria. After medical chart review, 22 subjects were excluded based on predefined criteria, and DNA samples from 88 affected infants and at least one parent per infant were collected and genotyped. Thirty-two single-nucleotide polymorphisms in 12 genes involved in vasoconstriction/vasodilation, lung development, surfactant regulation, or vascular endothelial cell function were investigated using family-based association tests.
Details
- Title: Subtitle
- Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn
- Creators
- Heather M Byers - Department of Obstetrics and Gynecology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USAJohn M DagleJonathan M KleinKelli K RyckmanErin L McDonaldJeffrey C MurrayKristi S Borowski
- Resource Type
- Journal article
- Publication Details
- Pediatric research, Vol.71(2), pp.162-167
- DOI
- 10.1038/pr.2011.24
- PMID
- 22258127
- PMCID
- PMC3718388
- NLM abbreviation
- Pediatr Res
- ISSN
- 1530-0447
- eISSN
- 1530-0447
- Publisher
- United States
- Grant note
- T32 5 GM007337 / NIGMS NIH HHS R01 HD057192-03 / NICHD NIH HHS R01 HD052953-02 / NICHD NIH HHS T32 GM007337 / NIGMS NIH HHS R01 HD057192 / NICHD NIH HHS R03 TW007644-02 / FIC NIH HHS R01 HD-57192 / NICHD NIH HHS R01 HD052953-04 / NICHD NIH HHS 5K12 HD-000849-23 / NICHD NIH HHS R01 HD052953-01 / NICHD NIH HHS R01 HD052953-05 / NICHD NIH HHS R01 HD052953 / NICHD NIH HHS R01 HD-52953 / NICHD NIH HHS R03 TW007644-01 / FIC NIH HHS R01 HD057192-02 / NICHD NIH HHS R01 HD057192-01A2 / NICHD NIH HHS R01 HD052953-03 / NICHD NIH HHS R03 TW007644 / FIC NIH HHS
- Language
- English
- Date published
- 02/2012
- Academic Unit
- Anatomy and Cell Biology; International Programs; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Biochemistry and Molecular Biology; Dental Research; Neonatology
- Record Identifier
- 9983996191802771
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