Association of Rare PTGIS Variants With Susceptibility and Pulmonary Vascular Response in Patients With Idiopathic Pulmonary Arterial Hypertension.

ABSTRACT:

Importance

Idiopathic pulmonary arterial hypertension (IPAH) is a fatal disease with high heritability; however, the bone morphogenetic protein receptor 2 (BMPR2) gene only accounts for 17% of IPAH. The genetic basis of IPAH needs further investigation.

Objective

To identify novel IPAH susceptibility genes other than BMPR2.

Design, setting, and participants

This 2-stage, case-control genetic association study enrolled 230 patients with IPAH from 2 referral pulmonary hypertension centers in China. Eligible patients had no BMPR2 variants and were compared with 968 healthy control participants. Data were collected from January 1, 2000, to July 31, 2015, and analyzed from August 1, 2015, to May 30, 2018.

Exposures

PTGIS rare variants.

Main outcomes and measures<

SUBMITTER: Wang XJ 

PROVIDER: S-EPMC7113838 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature