Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
Open accessAbstract
We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (Pmeta = 2.4 × 10(-8) to 1.1 × 10(-19)), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs.
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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 Fingerlin et al., 2013
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- Authors
- Fingerlin, T. E., Murphy, E., Zhang, W., Peljto, A. L., Brown, K. K., Steele, M. P., Loyd, J. E., Cosgrove, G. P., Lynch, D., Groshong, S., Collard, H. R., Wolters, P. J., Bradford, W. Z., Kossen, K., Seiwert, S. D., du Bois, R. M., Garcia, C. K., Devine, M. S., Gudmundsson, G., Isaksson, H. J., Kaminski, N., Zhang, Y., Gibson, K. F., Lancaster, L. H., Cogan, J. D., Mason, W. R., Maher, T. M., Molyneaux, P. L., Wells, A. U., Moffatt, M. F., Selman, M., Pardo, A., Kim, D. S., Crapo, J. D., Make, B. J., Regan, E. A., Walek, D. S., Daniel, J. J., Kamatani, Y., Zelenika, D., Smith, K., McKean, D., Pedersen, B. S., Talbert, J., Kidd, R. N., Markin, C. R., Beckman, K. B., Lathrop, M., Schwarz, M. I., & Schwartz, D. A.
- Affiliations
- University of Colorado Denver (US)
- Vanderbilt University (US)
- National Jewish Health (US)
- University of California, San Francisco (US)
- The University of Texas Southwestern Medical Center (US)
- University of Iceland (IS)
- University of Pittsburgh (US)
- Royal Brompton Hospital (GB)
- Universidad Nacional Autónoma de México (MX)
- Asan Medical Center (KR)
- University of Minnesota (US)
- Fondation Jean Dausset-CEPH (FR)
- IQVIA (United States) (US)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Corresponding author
- Fingerlin, Tasha E
- Schwartz, David A
- ORCID
- Fingerlin, Tasha E
- Murphy, Elissa
- Peljto, Anna L
- Loyd, James E
- Lynch, David
- Groshong, Steve
- Collard, Harold R
- Wolters, Paul J
- Garcia, Christine Kim
- Devine, Megan S
- Kaminski, Naftali
- Zhang, Yingze
- Gibson, Kevin F
- Lancaster, Lisa H
- Cogan, Joy D
- Maher, Toby M
- Molyneaux, Philip L
- Wells, Athol U
- Moffatt, Miriam F
- Pardo, Annie
- Crapo, James D
- Make, Barry J
- Regan, Elizabeth A
- Daniel, Jerry J
- Smith, Keith
- McKean, David
- Pedersen, Brent S
- Beckman, Kenneth B
- Lathrop, Mark
- Schwartz, David A
- Venue
- Nature Genetics
- Published
- 2013-04-14
- Volume
- 45
- Issue
- 6
- Pages
- 613-620
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3677861
- OpenAlex
- W2055245602
- Cited by
- 809
- References
- 69
- Citations by year
- 2026: 34 · 2025: 56 · 2024: 45 · 2023: 78 · 2022: 82 · 2021: 83 · 2020: 58 · 2019: 60 · 2018: 69 · 2017: 52 · 2016: 52 · 2015: 63 · 2014: 55 · 2013: 19
- FWCI
- 9.79
- Type
- journal article
- Language
- en
- Update notices
- erratum (2013-10-29)
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Spiral (Imperial College London) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- Funders
- U.S. Department of Veterans Affairs (I01 BX001534)
- American Thoracic Society
- Wellcome Trust (097117, 096964/Z/11/Z)
- National Jewish Health
- National Institutes of Health (5p50hl084932-05)
- National Heart, Lung, and Blood Institute (R01HL097163, R01HL095393, P50 HL0894932, P50-HL-084932, U01HL108642, U01HL089856, U01HL089897, P01HL092870, RC2HL101715)
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Keywords
- pulmonary fibrosis, genetic susceptibility loci, MUC5B, telomerase reverse transcriptase, TERC, FAM13A, DSP, ATP11A, DPP9, host defense genes, cell-cell adhesion, DNA repair
- MeSH terms
- Chromosomes, Human, Gene Frequency, Humans, Lung, Gene Expression, Case-Control Studies, Sequence Analysis, DNA, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Idiopathic Pulmonary Fibrosis, Genome-Wide Association Study, Genetic Loci
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