Genetic determinants of risk in pulmonary arterial hypertension: international genome-wide association studies and meta-analysis.

ABSTRACT:

Background

Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes.

Methods

We did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11 744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci rea

SUBMITTER: Rhodes CJ 

PROVIDER: S-EPMC6391516 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature