TY - JOUR T1 - <em>COL18A1</em> genotypic associations with endostatin levels and clinical features in pulmonary arterial hypertension: a quantitative trait association study JF - ERJ Open Research JO - erjor DO - 10.1183/23120541.00725-2021 VL - 8 IS - 2 SP - 00725-2021 AU - Catherine E. Simpson AU - Megan Griffiths AU - Jun Yang AU - Melanie K. Nies AU - Dhananjay Vaidya AU - Stephanie Brandal AU - Lisa J. Martin AU - Michael W. Pauciulo AU - Katie A. Lutz AU - Anna W. Coleman AU - Eric D. Austin AU - D. Dunbar Ivy AU - William C. Nichols AU - Allen D. Everett AU - Paul M. Hassoun AU - Rachel L. Damico Y1 - 2022/04/01 UR - http://openres.ersjournals.com/content/8/2/00725-2021.abstract N2 - Endostatin (ES) is a circulating peptide derived from collagen XVIII alpha 1 (COL18A1) known to inhibit angiogenesis [1, 2]. Decreased angiogenesis is a feature of pulmonary arterial hypertension (PAH) in animal models [3] and human subjects [4]. Our group has reported strong associations between circulating ES levels and haemodynamics and survival in PAH [5–7]. We have also reported that a missense variant in COL18A1, which encodes ES, confers lower ES and longer survival, suggesting that variation within the gene contributes to circulating levels [5]. In the current study, we assessed COL18A1 variant associations with clinical phenotypes and outcomes, including COL18A1 associations with circulating ES levels, in a large, multicentre PAH cohort in which we previously investigated ES as a prognostic biomarker [6].Variation around the COL18A1 gene, which encodes the angiostatic peptide endostatin, may influence disease heterogeneity in pulmonary arterial hypertension https://bit.ly/3shXrNRExome sequencing and genotyping data were generated by Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY, USA. ER -