The collaborative study showed that idiopathic pulmonary fibrosis is associated with common genetic variants and limited rare variants.
Prof Michael P. Keane and Assoc Prof Cormac McCarthy co-author a paper focused on idiopathic pulmonary fibrosis (IPF), a rare, irreversible, and progressive disease of the lungs. Common genetic variants, in addition to non-genetic factors, have been consistently associated with IPF. Their paper found that rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease. This is the first study to comprehensively assess the impact of rare variants in IPF, using an agnostic analysis strategy. These results have advanced our understanding of IPF genetics by highlighting the etiologic importance of only two well-established rare genetic variants (TERT and RTEL1), replicating common variants, and defining the heritability of IPF.
Full details: https://www.atsjournals.org/doi/abs/10.1164/rccm.202207-1331OC?role=tab