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Abstract
Fibrotic interstitial lung diseases (ILDs) have a high mortality rate with an unpredictable
disease course and clinical features that frequently overlap. Recent data indicate
important roles for genomics in the mechanisms underlying susceptibility and progression
of pulmonary fibrosis. The impact of these genomic markers on pharmacotherapy and
their contribution to outcomes is increasingly recognized. Interstitial lung abnormalities,
frequently considered representative of early ILD, have been consistently associated
with the MUC5B promoter polymorphism, a common gene variant. Other rare gene variant
mutations, including TERT , TERC , SFTPC , and DKC1 , may be present in patients
with familial interstitial pneumonia and are frequently associated with a usual interstitial
pneumonia pattern of fibrosis. The minor allele of the MUC5B rs35705950 genotype
is prevalent in several sporadic forms of ILD, including idiopathic pulmonary fibrosis
and chronic hypersensitivity pneumonitis. Gene mutations that characterize familial
pulmonary fibrosis may be present in patients with connective tissue disease-related
ILD, such as rheumatoid arthritis-ILD. Additionally, shorter telomere lengths and
mutations in telomere biology-related genes have been demonstrated in both familial
and sporadic ILD, with significant implications for disease progression, lung function,
and survival. An improved understanding of the impact of genetic and genomic risk
factors on disease progression would better guide personalized therapeutic choices
in persons with fibrotic ILD.