Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.

ABSTRACT:

Background

A large proportion of pulmonary embolism (PE) heritability remains unexplained, particularly among the East Asian (EAS) population. Our study aims to expand the genetic architecture of PE and reveal more genetic determinants in Han Chinese.

Methods

We conducted the first genome-wide association study (GWAS) of PE in Han Chinese, then performed the GWAS meta-analysis based on the discovery and replication stages. To validate the effect of the risk allele, qPCR and Western blotting experiments were used to investigate possible changes in gene expression. Mendelian randomization (MR) analysis was employed to implicate pathogenic mechanisms, and a polygenic risk score (PRS) for PE risk prediction was generated.

Results

After meta-analysis of the discovery datas

SUBMITTER: Zhang Z 

PROVIDER: S-EPMC10116678 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature