Preprint: Polygenic risk scores enhance the identification of carriers of monogenic forms of idiopathic pulmonary fibrosis
WHY IT MATTERS
If validated, this approach could help IPF patients get faster genetic diagnoses by identifying who should be prioritized for rare variant testing, potentially leading to earlier intervention and more personalized treatment strategies.
Scientists found that a new scoring system called a polygenic risk score (PRS) could help doctors identify which patients with idiopathic pulmonary fibrosis (IPF)—a serious lung disease where lung tissue becomes scarred—are more likely to carry rare genetic mutations. The study suggests that patients with lower PRS scores may be better candidates for genetic testing to find these rare mutations, which could improve how doctors diagnose and understand the disease.
Polygenic risk scores enhance the identification of carriers of monogenic forms of idiopathic pulmonary fibrosis Authors: Alonso-Gonzalez, A. et al. Server: medRxiv Category: genetic and genomic medicine Abstract: BackgroundIdiopathic pulmonary fibrosis (IPF) is a rare disease with a poor prognosis. Disease risk involves rare and common genetic variants. However, an inverse association have been described between them. Accordingly, IPF patients with a higher polygenic risk score (PRS) for IPF are less likely to carry rare deleterious variants and vice versa. Here, we evaluate weather PRS of IPF could serve as an additional criterion to patient prioritisation for rare variant discovery. MethodsWe identified carriers based on the presence of rare qualifying variants (QVs) in genes linked to monogenic for