Polymorphisms in the Urea Cycle Enzyme Genes Are Associated with Persistent Pulmonary Hypertension of Newborn

Dinushan Kaluarachchi; Jessica Smith; Bruce Bedell; Jonathan Klein; John Dagle; Kelli Ryckman; Jeffrey Murray

doi:10.1542/peds.140.1MA.73

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Polymorphisms in the Urea Cycle Enzyme Genes Are Associated with Persistent Pulmonary Hypertension of Newborn

Abstract

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Polymorphisms in the Urea Cycle Enzyme Genes Are Associated with Persistent Pulmonary Hypertension of Newborn

Dinushan Kaluarachchi, Jessica Smith, Bruce Bedell, Jonathan Klein, John Dagle, Kelli Ryckman and Jeffrey Murray

Pediatrics (Evanston), Vol.140(1), pp.73-73

09/01/2017

DOI: 10.1542/peds.140.1MA.73

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Abstract

Persistent Pulmonary Hypertension of the Newborn (PPHN) is characterized by elevated pulmonary vascular resistance with extrapulmonary right to left shunting causing life threatening hypoxemia. Endogenous Nitric Oxide is critical for regulation of pulmonary vascular resistance and the transition of pulmonary circulation at birth. Endothelial cells generate Nitric Oxide from the precursor L - arginine which is an amino acid supplied by the urea cycle. We hypothesized that polymorphisms in Urea Cycle genes and low concentrations of urea cycle intermediates are associated with PPHN. We performed a family based candidate gene analysis to study 48 SNPs(single nucleotide polymorphisms) in 6 urea cycle enzyme genes(CPS1, NAGS, ASS, ASL, ARG1, OTC). SNPs were genotyped using the Fluidigm genotyping platform. Genotyping was done on 110 families with infants diagnosed with PPHN based on inclusion/ exclusion criteria (infant and at least one parent).

Amino Acids

Hypertension

Infants

Pediatrics

Endothelial cells

Genotyping

Hypoxemia

Intermediates

Nitric oxide

Single-nucleotide polymorphism

Urea

Details

Title: Subtitle: Polymorphisms in the Urea Cycle Enzyme Genes Are Associated with Persistent Pulmonary Hypertension of Newborn
Creators: Dinushan Kaluarachchi - University of Iowa
Jessica Smith - University of Iowa
Bruce Bedell - University of Iowa
Jonathan Klein - University of Iowa
John Dagle - University of Iowa
Kelli Ryckman - University of Iowa
Jeffrey Murray - University of Iowa
Resource Type: Abstract
Publication Details: Pediatrics (Evanston), Vol.140(1), pp.73-73
DOI: 10.1542/peds.140.1MA.73
ISSN: 0031-4005
eISSN: 1098-4275
Publisher: American Academy of Pediatrics
Language: English
Date published: 09/01/2017
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research; Neonatology
Record Identifier: 9985075319802771

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