Polygenic Risk and Rare Variants in Endotypes of Idiopathic Pulmonary Fibrosis
Anna Duckworth, Leigh M. Jackson, Harry Green, Atlas Khan, Chen Wang, Andrew Condescu, Gareth Hawkes, Imre Noth, Fernando J. Martínez, Ganesh Raghu, Chad A. Newton, Matthew R. Moll, Michael Cho, Michael Gibbons, Chris J. Scotton, , David Zhang
This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.
The Lancet Respiratory Medicine · Jan 27, 2026Peer-reviewedGenetic & Genomic Medicine