Publications by authors named "Tobias Tilly"
Background: Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 (BMPR2) are the cause of most heritable cases but the vast majority of other cases are genetically undefined.
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- About 25% of patients with pulmonary arterial hypertension (PAH) have rare mutations in genes that cause the disease, prompting researchers to utilize deep phenotyping and whole-genome sequencing to uncover genetic associations.
- In a large study of over 13,000 participants, a Bayesian method identified significant links between loss-of-function variants in the Kinase Insert Domain Receptor (KDR) gene and specific clinical features of PAH, including reduced lung function and older age at diagnosis.
- The study also confirmed KDR as a candidate gene for PAH and highlighted its role in the vascular system, suggesting its potential for clinical relevance in understanding and treating the disease.