Related Experiment Video
Updated: Jun 20, 2026

Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
Drug-Gene Risk Stratification in Patients with Suspected Drug-Induced Interstitial Lung Disease
Marjolein Drent1,2,3, Petal A Wijnen4,5,6, Naomi T Jessurun5,7
1Department of Pharmacology and Toxicology, Faculty of Health, Medicine, and Life Science, Maastricht University, Maastricht, The Netherlands. m.drent@ildcare.nl.
Genetic variations in drug-metabolizing enzymes are linked to drug-induced interstitial lung disease (DI-ILD). Understanding these genetic factors is crucial for diagnosing and managing fibrotic lung conditions.
Area of Science:
- Pharmacogenomics
- Pulmonary Medicine
- Toxicology
Background:
- Pulmonary toxicity is an underrecognized complication of drug use.
- Drug-induced interstitial lung disease (DI-ILD) presents a diagnostic challenge.
- Genetic factors may influence susceptibility to DI-ILD.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in cytochrome P450 (CYP) enzymes and DI-ILD.
- To determine if specific CYP gene variants correlate with the risk of developing fibrotic lung disease due to drug exposure.
Main Methods:
- Retrospective observational study of 467 patients with suspected DI-ILD.
- Analysis of genetic variations in CYP2D6, CYP2C9, and CYP2C19 iso-enzymes.
- Correlation of genetic findings with drug usage patterns and clinical diagnoses (non-specific interstitial pneumonia, idiopathic pulmonary fibrosis).
Main Results:
- 79% of patients exhibited gene polymorphisms linked to drug metabolism.
- 60% were classified as likely DI-ILD (poor metabolizers or polypharmacy).
- 37.5% were classified as highly likely DI-ILD.
- Statins were the most common drugs used, particularly in men.
Conclusions:
- A significant proportion of patients with suspected DI-ILD carry genetic variants affecting drug metabolism.
- CYP genetic analysis, combined with drug history, aids in diagnosing DI-ILD.
- Genetic predisposition and drug exposure are critical factors in the development and progression of fibrotic lung diseases.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenomics: Identification of New Drug Targets
Drug Toxicity: Risk factors
Drug toxicity: Idiosyncratic Reactions

