rs11078738 - PFAS

Magnitude 4.5 · 1 study on file

Reported associations

• Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension. - Pharmacogenetics and genomics (2022) · Thomeas-McEwing V, Psotka MA, Gamazon ER, Friedman P, Konkashbaev A, Kubo M, Nakamura Y, Ratain MJ, Benza RL, Cox NJ, Gomberg-Maitland MI, Maitland ML · PubMed 35383711

  Prostacyclin infusion for pulmonary arterial hypertension (PAH) is an effective therapy with varied dosing requirements and clinical response. The major aim of this study was to determine new biologically-based predictors of prostacyclin treatment response heterogeneity. Ninety-eight patients with hemodynamically defined PAH at two academic medical centers volunteered for registry studies. A stable dose of treprostinil was the quantitative phenotype for the genome-wide association study (GWAS). Candidate genes with the largest effect sizes and strongest statistical associations were further characterized with in silico and in-vitro assays to confirm mechanistic hypotheses. The clinical significance of these candidate predictors was assessed for mechanistically consistent physiologic effect

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