ArticleRespiratory research2019
Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.
Article in Respiratory research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 31 citations in OpenAlex.
- Advances in Novel Therapeutic Strategies for Pulmonary Arterial Hypertension.Canadian respiratory journal · 2026Review
- Review of Precision Medicine and Diagnosis of Neonatal Illness.Diagnostics (Basel, Switzerland) · 2025Review
- Pathophysiology of Group 3 Pulmonary Hypertension Associated with Lung Diseases and/or Hypoxia.International journal of molecular sciences · 2025Review
- Identification of genetic factors underlying severe retinopathy of prematurity in preterm infants.Molecular vision · 2025Article
- Global, regional and national trends in the burden of persistent pulmonary hypertension of the newborn and essentials of its management from 1993 to 2023: a scoping review.Frontiers in pediatrics · 2025Review
- Review
- Seeing pulmonary hypertension through a paediatric lens: a viewpoint.The European respiratory journal · 2024Article
- Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.Italian journal of pediatrics · 2024Review
- Early Pulmonary Hypertension in Preterm Infants.Clinics in perinatology · 2024Review
- Pulmonary hypertension associated with diazoxide: the SUR1 paradox.ERJ open research · 2023Review
- 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
- Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension.Journal of clinical medicine · 2022Article
- Molecular genetics of pulmonary hypertension in children.Current opinion in genetics & development · 2022Review
- Group 3 Pulmonary Hypertension: From Bench to Bedside.Circulation research · 2022Review
- Notch signalling in healthy and diseased vasculature.Open biology · 2022Review
- Channelopathy Genes in Pulmonary Arterial Hypertension.Biomolecules · 2022Review
- Association between genetic variations in carbamoyl-phosphate synthetase gene and persistent neonatal pulmonary hypertension.European journal of pediatrics · 2021Article
- Ion channels as convergence points in the pathology of pulmonary arterial hypertension.Biochemical Society transactions · 2021Review
- Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.Respiratory research · 2020Article
- Notch3 signalling and vascular remodelling in pulmonary arterial hypertension.Clinical science (London, England : 1979) · 2019Review
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
backgroundPersistent pulmonary hypertension of the newborn (PPHN) is a severe clinical problem among neonatal intensive care unit (NICU) patients. The genetic pathogenesis of PPHN is unclear. Only a few genetic polymorphisms have been identified in infants with PPHN. Our study aimed to investigate the potential genetic etiology of PPHN.
methodsThis study recruited PPHN patients admitted to the NICU of the Children's Hospital of Fudan University from Jan 2016 to Dec 2017. Exome sequencing was performed for all patients. Variants in reported PPHN/pulmonary arterial hypertension (PAH)-related genes were assessed. Single nucleotide polymorphism (SNP) association and gene-level analyses were carried out in 74 PPHN cases and 115 non-PPHN controls with matched baseline characteristics.
resultsAmong the patient cohort, 74 (64.3%) patients were late preterm and term infants (≥ 34 weeks gestation) and 41 (35.7%) were preterm infants (< 34 weeks gestation). Preterm infants with PPHN exhibited low birth weight and a high frequency of bronchopulmonary dysplasia, respiratory distress syndrome (RDS) and mortality. Nine patients (only one preterm infant) were identified as harboring genetic variants, including three with pathogenic/likely pathogenic variants in TBX4 and BMPR2 and six with variants of unknown significance in BMPR2, SMAD9, TGFB1, KCNA5 and TRPC6. Three SNPs (rs192759073, rs1047883 and rs2229589) in CPS1 and one SNP (rs1044008) in NOTCH3 were significantly associated with PPHN (p < 0.05). CPS1 and SMAD9 were identified as risk genes for PPHN (p < 0.05).
conclusionsIn this study, we identified genetic variants in PPHN patients, and we reported CPS1, NOTCH3 and SMAD9 as risk genes for late preterm and term PPHN in a single-center Chinese cohort. Our findings provide additional genetic evidence of the pathogenesis of PPHN and new insight into potential strategies for disease treatment.
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