Genetically Identifying the 'Thromboembolic' in Chronic Thromboembolic Pulmonary Hypertension

摘要

In this issue of the Journal, Liley and colleagues (pp. 1477-1485) report the largest genome-wide association study (GWAS) to date of patients with the rare disease of chronic thromboembolic pulmonary hypertension (CTEPH) (1). In a European and American endeavor, a total of almost 2,500 patients with CTEPH were recruited and genotyped for variants previously identified in the general population. More than 10,000 control subjects from Europe were used in a case-control analysis to tease out those variants enriched in patients with CTEPH compared with control subjects. The resulting genomic hits were ranked by P values. These were then coanalyzed together with P values retrieved from a GWAS of U.K. biobank patients with self-reported pulmonary embolisms or deep vein thrombosis (DVT) and with previously published GWAS results from patients with pulmonary arterial hypertension (PAH) (2).