Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.

ABSTRACT:

Background

Persistent 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.

Methods

This 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 characteri

SUBMITTER: Liu X 

PROVIDER: S-EPMC6683566 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature