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Fig. 1 | BMC Medicine

Fig. 1

From: Incorporating genetics into the identification and treatment of Idiopathic Pulmonary Fibrosis

Fig. 1

The genetic basis of idiopathic pulmonary fibrosis. This figure represents the spectrum of genetic variants known to confer risk for idiopathic pulmonary fibrosis and their relative allele frequency and effect size. Though rare variants have a low allele frequency, their effect size is profound, whereas common variants, though strongly statistically associated with disease, have a low effect size. The MUC5B promoter polymorphism rs35705950, though common, has a significant effect size. The low effect size of the common variants could suggest a strong gene-by-environment interaction in the overall risk of disease. (Adapted and reproduced with permission from Antonarakis et al., Nature Rev Genetics 2010, 11:380.) [53]

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