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doi:10.1378/chest.06-2252
(Chest. 2007; 131:1216-1223)
© 2007 American College of Chest Physicians
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Right arrow Translating Basic Research into Clinical Practice

Single-Nucleotide Polymorphisms and Lung Disease*

Clinical Implications

Scott J. Tebbutt, PhD; Alan James, MD and Peter D. Paré, MD

* From the Department of Medicine and The James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research (Drs. Tebbutt and Paré), Department of Medicine, St. Paul’s Hospital, University of British Columbia, Vancouver, BC; and School of Medicine and Pharmacology (Dr. James), University of Western Australia and West Australian Sleep Disorders Research Institute, Sir Charles Gairdner Hospital, Perth, Australia.

Correspondence to: Scott Tebbutt, PhD, James Hogg iCAPTURE Centre for Cardiovascular and Pulmonary Research, St. Paul’s Hospital, University of British Columbia, 1081 Burrard St, Vancouver, BC, Canada, V6Z 1Y6; e-mail: stebbutt{at}mrl.ubc.ca

Abstract

Human genetic variation has enormous implications for individual susceptibility to lung disease, as well as for differences in prognosis and response to therapeutic interventions. Single-nucleotide polymorphisms (SNPs) are the most common type of DNA sequence variation. An SNP is the substitution of a single base in the sequence for one that is different from that present in the majority of the population. In this review, we describe in more detail what SNPs are, how they are discovered, and their potential to elucidate the genetic basis of lung disease. We illustrate several examples of how SNPs are being used—or are poised for use—in diagnostic and therapeutic applications. We conclude with a brief discussion of the future of medicine and how genetic knowledge and application can play an ever-increasing and important role in more effective diagnosis and treatment at a more personalized level.

Key Words: genetics • genotyping • lung disease • pharmacogenetics • single-nucleotide polymorphism






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