Pharmacogenetics and interstitial lung disease

Justin Oldham, Imre Noth, Fernando J. Martinez

Research output: Contribution to journalReview articlepeer-review

7 Scopus citations


Purpose of review Interstitial lung disease (ILD) is comprised of a heterogeneous group of disorders with highly variable natural histories and response to therapies. Pharmacogenetics focuses on the variability in drug response because of the presence of genetic factors that influence drug metabolism or disease activity. In this article, we review relevant drug-specific and disease-specific polymorphisms that may influence therapeutic response, and then highlight a recently identified drug-gene interaction in patients with idiopathic pulmonary fibrosis (IPF). Recent findings The emergence of high-throughput genomic technology has allowed for identification of gene polymorphisms associated with susceptibility to specific disease states, including IPF and several connective tissue diseases known to cause ILD. IPF risk loci span a diverse group of genes, while most associated with connective tissue disease are critical to immune signaling. A recent pharmacogenetic analysis of patients enrolled in an IPF clinical trial identified a variant within TOLLIP to be associated with differential response to N-acetylcysteine therapy. Summary Though few pharmacogenetic investigations have been conducted in patients with ILD to date, ample opportunities for pharmacogenetic exploration exist in this patient population. Such exploration will advance our understanding of specific ILDs and help usher in an era of personalized medicine.

Original languageEnglish (US)
Pages (from-to)456-465
Number of pages10
JournalCurrent Opinion in Pulmonary Medicine
Issue number5
StatePublished - Sep 1 2016


  • connective tissue disease
  • idiopathic pulmonary fibrosis
  • interstitial lung disease
  • pharmacogenetics

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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