Genome-wide association analyses identified susceptibility loci for chronic thromboembolic pulmonary hypertension among Chinese population

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare and complex complication of acute pulmonary embolism (PE) but the genetic background has not been elucidated. Our study aims to explore the susceptibility loci for CTEPH and genetic correlation between CTEPH and PE in Chinese population. We carried out the first Genome-wide association analyses (GWAS) among Chinese population. The study analyzed whole-genome sequencing (WGS) data comprising 412 CTEPH patients and 2000 controls on the discovery stage and 350 CTEPH patients and 1000 controls on the replication stage. GWAS identified 216 independent loci after clumping in the FUMA GWAS site. Then we conducted gene mapping using positional and eQTL mapping and determined 212 genes mapped from the 216 loci. Among these genes, we found some classical genes shared with PE, such as <italic>F2</italic>, <italic>PROC</italic>, and some genes were distinct from PE. The shared genes provide new perspectives to reveal the common genetic mechanisms underlying CTEPH and PE, and the distinct genes offer new sights for exploring the molecular mechanisms and potential therapeutic targets of CTEPH. <fig><object-id>erj;64/suppl_68/PA5232/F1</object-id><object-id>F1</object-id><object-id>F1</object-id><graphic></graphic></fig>