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Cross-ancestry evaluation of idiopathic pulmonary fibrosis genetic risk variants

Nabunje, R.; Guillen-Guio, B.; Hernandez-Beeftink, T.; Joof, E.; Leavy, O. C.; International IPF Genetics Consortium, ; Maher, T. M.; Molyneux, P.; Noth, I.; Urrutia, A.; Aburto, M.; Flores, C.; Jenkins, R. G.; Wain, L. V.; Allen, R. J.

2026-04-25 genetic and genomic medicine
10.64898/2026.04.17.26349970 medRxiv
Show abstract

Genome-wide association studies of idiopathic pulmonary fibrosis (IPF) have identified 35 common genetic risk loci associated with IPF susceptibility. In this study, we evaluated the effects of the reported variants in clinically curated non-European individuals. Despite limited sample sizes, we observed partial replication, limited transferability of some variants and evidence of ancestry-specific effects. The MUC5B promoter variant rs35705950 emerged as the dominant and most consistent signal across ancestries. Our findings highlight the need for larger, well-characterised studies in understudied populations to support robust discovery and translation.

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