Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn.

ABSTRACT:

Introduction

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.

Results

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.

Discussion

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.

Metho

SUBMITTER: Byers HM 

PROVIDER: S-EPMC3718388 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature