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Proportion of idiopathic pulmonary fibrosis risk explained by known genetic loci

By Olivia C Leavy, Shwu-Fan Ma, Phil Molyneaux, Toby M Maher, Justin M Oldham, Carlos Flores, Imre Noth, Gisli Jenkins, Frank Dudbridge, Louise V Wain, Richard J Allen

Posted 15 Aug 2020
medRxiv DOI: 10.1101/2020.08.14.20172528

Genome-wide association studies have identified 14 genetic loci associated with susceptibility to idiopathic pulmonary fibrosis (IPF), a devastating lung disease with poor prognosis. Of these, the variant with the strongest association, rs35705950, is located in the promoter region of the MUC5B gene and has a risk allele (T) frequency of 30-35% in IPF cases. Here we present estimates of the proportion of disease liability explained by each of the 14 IPF risk variants as well as estimates of the proportion of cases that can be attributed to each variant. We estimate that rs35705950 explains 5.9-9.4% of disease liability, which is much lower than previously reported estimates. Of every 100,000 individuals with the rs35705950_GG genotype we estimate 30 will have IPF, whereas for every 100,000 individuals with the rs35705950_GT genotype 152 will have IPF. Quantifying the impact of genetic risk factors on disease liability improves our understanding of the underlying genetic architecture of IPF and provides insight into the impact of genetic factors in risk prediction modelling.

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