• James Liley, Michael Newnham, Marta Bleda, Katherine Bunclark, William Auger, Joan Albert Barbera, Harm Bogaard, Marion Delcroix, Timothy M Fernandes, Luke Howard, David Jenkins, Irene Lang, Eckhard Mayer, Chris Rhodes, Michael Simpson, Laura Southgate, Richard Trembath, John Wharton, Martin R Wilkins, Stefan Gräf, Nicholas Morrell, ZabaJoanna PepkeJPRoyal Papworth Hospital, Cambridge, United Kingdom., and Mark Toshner.
• Durham University, Durham, United Kingdom.
• Am. J. Respir. Crit. Care Med. 2024 Jun 15; 209 (12): 147714851477-1485.

AbstractRationale: Chronic thromboembolic pulmonary hypertension involves the formation and nonresolution of thrombus, dysregulated inflammation, angiogenesis, and the development of a small-vessel vasculopathy. Objectives: We aimed to establish the genetic basis of chronic thromboembolic pulmonary hypertension to gain insight into its pathophysiological contributors. Methods: We conducted a genome-wide association study on 1,907 European cases and 10,363 European control subjects. We coanalyzed our results with existing results from genome-wide association studies on deep vein thrombosis, pulmonary embolism, and idiopathic pulmonary arterial hypertension. Measurements and Main Results: Our primary association study revealed genetic associations at the ABO, FGG, F11, MYH7B, and HLA-DRA loci. Through our coanalysis, we demonstrate further associations with chronic thromboembolic pulmonary hypertension at the F2, TSPAN15, SLC44A2, and F5 loci but find no statistically significant associations shared with idiopathic pulmonary arterial hypertension. Conclusions: Chronic thromboembolic pulmonary hypertension is a partially heritable polygenic disease, with related though distinct genetic associations with pulmonary embolism and deep vein thrombosis.

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