Pharmacogenomics of Pulmonary and Respiratory Diseases

  • Luciana B. Crotti
  • Fernanda Kehdy
  • Eduardo Tarazona-Santos
  • Luis A. Espinoza


The identification of variations or mutations in genes encoding proteins that are involved in drug processing or metabolism can provide key information relevant to differential responses to therapeutic agents in specific genetic populations groups. It is well accepted that genetic variability (functional polymorphisms) may explain the failure of therapies and/or serious adverse side effects during and after treatment. Therefore, there is enormous interest in identifying these variants and determining their clinical relevance. In this regard, the main focus of pharmacogenomics is the study of inherited variations in genes that modulate drug response and their influence in predicting patient response to a specific treatment. For this purpose, pharmacogenomics integrates genomic information and technologies driving drug discovery and developing large-scale genomic studies to identify genetic variations. These findings may provide benefits in designing therapies more targeted to specific diseases, maximizing therapeutic effects, decreasing adverse reactions, and developing better methods to determine effective drug dosages. In addition to the anticipated benefit of personalized medicine, the identification of genetic markers may also influence the lifestyle, environment, and diet of those individuals with high susceptibility to develop a particular disease(s) and to prevent or delay the development of diseases. This chapter will focus on mutations and the variety of polymorphisms that may be associated with therapy resistance for people with different types of lung diseases such as chronic obstructive pulmonary disease (COPD), tuberculosis (TB), idiopathic pulmonary fibrosis (IPF), pulmonary arterial hypertension (PAH), and interstitial lung damage (ILD). In fact, insights from recent evidences strongly support the notion that pharmacogenomics will be essential in improving innovative genomic-based therapies based on the genomic profiles of patients.


Chronic Obstructive Pulmonary Disease Pulmonary Arterial Hypertension Idiopathic Pulmonary Fibrosis Chronic Obstructive Pulmonary Disease Exacerbation Hereditary Hemorrhagic Telangiectasia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer India 2013

Authors and Affiliations

  • Luciana B. Crotti
    • 1
  • Fernanda Kehdy
    • 2
  • Eduardo Tarazona-Santos
    • 2
  • Luis A. Espinoza
    • 3
  1. 1.Department of BiochemistryUniformed Services University of the Health SciencesBethesdaUSA
  2. 2.Departamento de Biologia GeralUniversidade Federal de Minas GeraisBelo HorizonteBrazil
  3. 3.Department of Biochemistry and Molecular Biology & Cell BiologyGeorgetown UniversityWashingtonUSA

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