Pulmonary fibrosis in the era of stratified medicine
Open accessAbstract
gene and has been strongly associated with idiopathic pulmonary fibrosis (IPF) and familial interstitial pneumonia (FIP) across multiple different cohorts. However, many more common variants have been identified with disease risk and in aggregate account for approximately one-third of the risk of IPF. Moreover, several of these common variants appear to have prognostic potential. Next generation sequencing technologies have facilitated the identification of rare variants. Recent whole exome sequencing studies have linked pathogenic rare variants in multiple new genes to FIP. Compared with common variants, rare variants have lower population allele frequencies and higher effect sizes. Pulmonary fibrosis rare variants genes can be subdivided into two pathways: telomere maintenance and surfactant metabolism. Heterozygous rare variants in telomere-related genes co-segregate with adult-onset pulmonary fibrosis with incomplete penetrance, lead to reduced protein function, and are associated with short telomere lengths. Despite poor genotype-phenotype correlations, lung fibrosis associated with pathogenic rare variants in different telomere genes is progressive and displays similar survival characteristics. In contrast, many of the heterozygous rare variants in the surfactant genes predict a gain of toxic function from protein misfolding and increased endoplasmic reticulum (ER) stress. Evidence of both telomere shortening and increased ER stress have been found in sporadic IPF patients, suggesting that the mechanisms identified from rare variant genetic studies in unique individuals and families are applicable to a wider spectrum of patients. The ability to sequence large cohorts of individuals rapidly has the potential to further our understanding of the relative contributions of common and rare variants in the pathogenesis of pulmonary fibrosis. The UK 100,000 Genomes Project will provide opportunities to interrogate both common and rare variants and to investigate how these biological signals provide diagnostic and prognostic information in the era of stratified medicine.
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The most well-studied genetic risk factors for IPF include genes associated with epithelial function (MUC5B, SFTPC), telomere homeostasis (TERT, TERC), immune system (TOLLIP, DPP9), cell-cell adhesion (DSP), and the RhoA pathway (AKAP13).
“The most well studied genetic risk factors include genes associated with epithelial function, such as MUC5B (mucin 5B) and SFTPC (surfactant protein C), genes responsible for maintaining telomere homeostasis, such as TERT (telomerase reverse transcriptase) and TERC (telomerase RNA component), genes associated with the immune system, e.g. TOLLIP (toll-interacting protein) or the inflammasome e.g. D”
From Pulmonary fibrosis: Emerging diagnostic and therapeutic strategies (2023) · cites this paper as Mathai et al., 2016
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- [19]NCBI dbSNP entry for rs35705950 http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=357
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Self-citationIdiopathic pulmonary fibrosis.
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Pulmonary fibrosis: Emerging diagnostic and therapeutic strategies
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- Authors
- Mathai, S. K., Newton, C. A., Schwartz, D. A., & Garcia, C. K.
- Affiliations
- University of Colorado Denver (US)
- The University of Texas Southwestern Medical Center (US)
- Corresponding author
- Mathai, Susan K
- Venue
- Thorax
- Publisher
- BMJ
- Published
- 2016-10-31
- Volume
- 71
- Issue
- 12
- Pages
- 1154-1160
- ISSN
- 0040-6376 (ISSN-L)
- 1468-3296
- PMC
- PMC5450041
- OpenAlex
- W2543970179
- Cited by
- 77
- References
- 97
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 15 · 2022: 8 · 2021: 8 · 2020: 6 · 2019: 8 · 2018: 12 · 2017: 9
- FWCI
- 1.68
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Thorax (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs (Merit Award 1I01BX001534 (DAS))
- National Institutes of Health (P01-HL092870 (DAS), R01-HL097163 (DAS), R01HL093096 (CKG), R25-ES025476 (DAS), R33-HL120770 (DAS), T32HL098040 (CAN), UH2-HL123442 (DAS))
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Health Sciences › Medicine › Surgery › Transplantation: Methods and Outcomes
- Keywords
- idiopathic pulmonary fibrosis, familial interstitial pneumonia, rare variants, common genetic variants, telomere maintenance genes, telomere shortening, endoplasmic reticulum stress, protein misfolding, genotype-phenotype correlation, prognostic factors, stratified medicine
- MeSH terms
- Humans, Pulmonary Fibrosis, Pulmonary Surfactants, Genetic Variation, Lung Diseases, Interstitial, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Mucin-5B, Precision Medicine, Telomere Homeostasis
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