Ruaa Al-Qazazi, Isaac M Emon, François Potus, Ashley Y Martin, Patricia D A Lima, Caitlyn Vlasschaert, Kuang-Hueih Chen, Danchen Wu, Asish Das Gupta, Curtis Noordhof, Lindsay Jefferson, Amy J M McNaughton, Alexander G Bick, Michael W Pauciulo, William C Nichols, Wendy K Chung, Paul M Hassoun, Rachel L Damico, Michael J Rauh, Stephen L Archer
BACKGROUND: Mutations are found in 10-20% of idiopathic PAH (IPAH) patients, but none are consistently identified in connective tissue disease-associated PAH (APAH), which accounts for ∼45% of PAH cases. TET2 mutations, a cause of clonal hematopoiesis of indeterminant potential (CHIP), predispose to an inflammatory type of PAH. We now examine mutations in another CHIP gene, DNMT3A , in PAH. METHODS: We assessed DNMT3A mutation prevalence in PAH Biobank subjects as compared with controls, first using whole exome sequencing (WES)-derived CHIP calls in 1832 PAH Biobank patients versus 7509 age-and sex-matched gnomAD controls...
December 31, 2023: medRxiv