ArticlePediatric research2018
Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn.
Article in Pediatric research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Elevated isoleucine may be a protective factor for primary hypertension: A pooled causal effect study.Medicine · 2025Article
- Article
- Genome-wide association study identifies WWC2 as a possible locus associated with persistent pulmonary hypertension of the newborn in the Thai population.Translational pediatrics · 2023Article
- Metabolic differences among newborns born to mothers with a history of leukemia or lymphoma.The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians · 2022Article
- Early versus late parenteral nutrition in term and late preterm infants: study protocol for a randomised controlled trial.BMC pediatrics · 2022Article
- Progressive Metabolic Abnormalities Associated with the Development of Neonatal Bronchopulmonary Dysplasia.Nutrients · 2022Article
- Metabolic Reprogramming of the Right Ventricle and Pulmonary Arteries in a Flow-Associated Pulmonary Arterial Hypertension Rat Model.ACS omega · 2022Article
- Association between genetic variations in carbamoyl-phosphate synthetase gene and persistent neonatal pulmonary hypertension.European journal of pediatrics · 2021Article
- Article
- Tandem Mass Tag-Based Proteomic Analysis of Potential Biomarkers for Hepatocellular Carcinoma Differentiation.OncoTargets and therapy · 2021Article
- Novel Prognostic Predictor for Primary Pulmonary Hypertension: Focus on Blood Urea Nitrogen.Frontiers in cardiovascular medicine · 2021Article
- CPS1: Looking at an ancient enzyme in a modern light.Molecular genetics and metabolism · 2020Review
- Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.Genes · 2020Article
- Characteristics of the urinary microbiome in kidney stone patients with hypertension.Journal of translational medicine · 2020Article
- Persistent Pulmonary Hypertension of the Newborn: Pathophysiological Mechanisms and Novel Therapeutic Approaches.Frontiers in pediatrics · 2020Review
- A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia.Journal of inherited metabolic disease · 2019Article
- Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.Respiratory research · 2019Article
- Inborn errors of metabolism in the 21Annals of translational medicine · 2018Review
- Altered metabolites in newborns with persistent pulmonary hypertension.Pediatric research · 2018Article
- Metabolic reprogramming of the urea cycle pathway in experimental pulmonary arterial hypertension rats induced by monocrotaline.Respiratory research · 2018Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
BackgroundPersistent pulmonary hypertension of the newborn (PPHN) is characterized by elevated pulmonary vascular resistance. Endogenous nitric oxide is critical for regulation of pulmonary vascular resistance. Nitric oxide is generated from L-arginine, supplied by the urea cycle (UC). We hypothesized that polymorphisms in UC enzyme genes and low concentrations of UC intermediates are associated with PPHN.MethodsWe performed a family-based candidate gene analysis to study 48 single-nucleotide polymorphisms (SNPs) in six UC enzyme genes. Genotyping was carried out in 94 infants with PPHN and their parents. We also performed a case-control analysis of 32 cases with PPHN and 64 controls to identify an association between amino-acid levels on initial newborn screening and PPHN.ResultsThree SNPs (rs41272673, rs4399666, and rs2287599) in carbamoyl phosphate synthase 1 gene (CPS1) showed a significant association with PPHN (P=0.02). Tyrosine levels were significantly lower (P=0.003) and phenylalanine levels were significantly higher (P=0.01) in cases with PPHN. There was no difference in the arginine or citrulline levels between the two groups.ConclusionsThis study suggests an association (P<0.05) between SNPs in CPS1 and PPHN. These findings warrant further replication in larger cohorts of patients.
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