Trait: idiopathic pulmonary fibrosis

Experimental Factor Ontology (EFO) Information
Identifier EFO_0000768
Description Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause. [Orphanet: 2032]
Trait category
Cancer
Synonyms 14 synonyms
  • CFA
  • Hamman-rich disease
  • IPF
  • UIP
  • cryptogenic fibrosing alveolitis
  • familial idiopathic pulmonary fibrosis
  • fibrocystic pulmonary dysplasia
  • fibrosing alveolitis
  • fibrosing alveolitis, cryptogenic
  • idiopathic pulmonary fibrosis
  • idiopathic pulmonary fibrosis, familial
  • interstitial pneumonitis, usual
  • pulmonary fibrosis, idiopathic
  • usual interstitial pneumonia
Mapped terms 13 mapped terms
  • COHD:45763750
  • DOID:0050156
  • EFO:0000768
  • GARD:0008609
  • ICD10:J84.1
  • ICD10:J84.112
  • ICD9:516.31
  • MESH:D054990
  • MedDRA:10021240
  • NCIT:C35716
  • OMIM:178500
  • Orphanet:2032
  • SCTID:196125002

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution
GWAS
Dev
Eval
 Scoring File (FTP Link)
PGS001791
(1kgeur_gbmi_leaveUKBBout_IPF_pst_eff_a1_b0.5_phiauto)
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Idiopathic pulmonary fibrosis idiopathic pulmonary fibrosis 910,439
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001791/ScoringFiles/PGS001791.txt.gz
PGS004695
(PRS23_IPF)
 PGP000598 |
Wang X et al. Chemosphere (2023)
 Idiopathic pulmonary fibrosis idiopathic pulmonary fibrosis 23
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004695/ScoringFiles/PGS004695.txt.gz
PGS005323
(PRS_CS_IPF)
 PGP000769 |
Zhu J et al. Am J Respir Crit Care Med (2025)
 Idiopathic pulmonary fibrosis idiopathic pulmonary fibrosis 653,482
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS005323/ScoringFiles/PGS005323.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		Evaluated Score PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM009295 PGS001791
(1kgeur_gbmi_leaveUKBBout_IPF_pst_eff_a1_b0.5_phiauto)
 PSS007714|
European Ancestry|
347,350 individuals
 PGP000262 |
Wang Y et al. Cell Genom (2023)
 Reported Trait: Idiopathic pulmonary fibrosis — AUROC: 0.758 Nagelkerke's R2 (covariates regressed out): 0.00593 sex,age,age2,age*sex,age^2*sex, 20PCs —
PPM020881 PGS004695
(PRS23_IPF)
 PSS011440|
European Ancestry|
402,042 individuals
 PGP000598 |
Wang X et al. Chemosphere (2023)
 Reported Trait: Incident idiopathic pulmonary fibrosis — — Hazard ratio (HR, high vs low PRS quintile): 3.78 [3.3, 4.34] Age, sex, education level, smoking status, pack-years of smoking, BMI —
PPM023074 PGS005323
(PRS_CS_IPF)
 PSS012111|
European Ancestry|
45,019 individuals
 PGP000769 |
Zhu J et al. Am J Respir Crit Care Med (2025)
 Reported Trait: incident idiopathic pulmonary fibrosis cases HR: 1.61 AUROC: 0.77 — age, age^2, sex, age × sex, age^2 × sex, UKB center, array, and the first 20 principal components of genetic ancestry. —

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS011440 — Median = 11.78 years
[
  • 2,589 cases
  • , 399,453 controls
]
,
46.66 % Male samples
 Mean = 56.41 years
Sd = 8.04 years		 European — UKB —
PSS007714 — —
[
  • 1,052 cases
  • , 346,297 controls
]
 — European — UKB —
PSS012111 ICD-10 code J84.1 with exclusion of secondary or other causes of pulmonary fibrosis Median = 10.85 years
[
  • 237 cases
  • , 44,782 controls
]
 — European
(White)		 — UKB —