title: Pharmacogenetics and interstitial lung disease.
abstract: 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).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: aDivision of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, The University of California at Davis, Sacramento, California bDepartment of Medicine, Section of Pulmonary and Critical Care Medicine, The University of Chicago, Chicago, Illinois cDepartment of Internal Medicine, Weill Cornell Medical School, New York City, New York, USA.
authors.forename: Justin M
authors.initials: JM
authors.lastname: Oldham
authors.forename: Imre
authors.initials: I
authors.lastname: Noth
authors.forename: Fernando J
authors.initials: FJ
authors.lastname: Martinez
mesh_terms: D059647:Gene-Environment Interaction; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000188:drug therapy / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D017563:Lung Diseases, Interstitial / Q000188:drug therapy* / Q000235:genetics*; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; C410602:TOLLIP protein, human