by Dr Emilia Swietlik, PhD
Idiopathic and heritable forms of pulmonary arterial hypertension (PAH) (including PVOD/PCH) are devastating conditions associated with high morbidity and mortality. The disease is usually diagnosed late by finding a markedly increase mean pulmonary arterial pressure, the result of progressive narrowing and remodelling of the pulmonary vasculature, and leading to the failure of the right ventricle. This disease tends to present in the middle decades of life, with a female predominance (f:m2.3:1). Untreated, it carries 3-year mortality of 60%. Approximately, 25% of patients with the idiopathic and 70% of those with a heritable form of the disease harbour mutations in genes associated with PAH.
Detailed phenotyping is required to deepen our understanding of the biological mechanisms behind these genetic associations. In addition, the impact of potentially modifiable risk factors on disease requires analytical frameworks that allow causal inference, this includes specific study design and statistical and computational methods to collect, share, and compute over the collected phenotypes. Recall-by-genotype (RbG) study is an ideal study design to investigate associations between the genetic variant(s) and the disease at a much lower cost and significantly higher definition than population studies.
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