Proportion of Idiopathic Pulmonary Fibrosis Risk Explained by Known Common Genetic Loci in European Populations

Understanding how genetic factors contribute to disease risk improves our understanding of pathogenesis, supports drug development, and aids risk prediction. Appropriate quantification and interpretation of this contribution is essential for measuring the impact of genetic variation and in motivating and informing future studies. Idiopathic pulmonary fibrosis (IFF) is a chronic disease characterized by scarring of the lungs. Current therapies only slow disease progression and half of individuals die within 3-5 years of diagnosis. A genetic variant. rs35705950. in the MUCSB (mucin 5B) gene promoter region is strongly associated with IPF susceptibility with the risk allele (T) associated with a fivefold increase in disease risk. Genome wide association studies (GYVAS) have identified 13 additional independent IPF susceptibility variants.