Skip to main content
release_alert
Welcome to the new Scholars 3.0! Read about new features and let us know what you think.
cancel

The state of genome-wide association studies in pulmonary disease: a new perspective.

Publication ,  Journal Article
Todd, JL; Goldstein, DB; Ge, D; Christie, J; Palmer, SM
Published in: Am J Respir Crit Care Med
October 15, 2011

With rapid advances in our knowledge of the human genome and increasing availability of high-throughput investigative technology, genome-wide association (GWA) studies have recently gained marked popularity. As an unbiased approach to identifying genomic regions of importance in complex human disease, the results of such studies have the potential to illuminate novel causal pathways, guide mechanistic research, and aid in prediction of disease risk. The use of a genome-wide approach presents considerable methodological and statistical challenges, and properly conducted studies are essential to avoid false-positive results. A total of 22 GWA studies have been published in pulmonary medicine thus far, implicating several intriguing genomic regions in the determination of pulmonary function measures, onset of asthma, and susceptibility to chronic obstructive pulmonary disease. Many questions remain, however, as most identified genetic variants contribute only nominally to overall disease risk, genetic disease mechanisms remain uncertain, and disease-associated variants are not consistent across studies. Perhaps most fundamentally, the association signals identified have not yet been traced to causal variants. This perspective will review the current state of GWA studies in pulmonary disease. We begin with an introduction to the hypothesis, principles, and limitations of this type of genome-wide approach, highlight key points from available studies, and conclude by addressing future approaches to better understand the genetics of complex pulmonary disease.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Respir Crit Care Med

DOI

EISSN

1535-4970

Publication Date

October 15, 2011

Volume

184

Issue

8

Start / End Page

873 / 880

Location

United States

Related Subject Headings

  • Respiratory System
  • Respiratory Function Tests
  • Respiration
  • Pulmonary Disease, Chronic Obstructive
  • Lung Diseases
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Asthma
  • 11 Medical and Health Sciences
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Todd, J. L., Goldstein, D. B., Ge, D., Christie, J., & Palmer, S. M. (2011). The state of genome-wide association studies in pulmonary disease: a new perspective. Am J Respir Crit Care Med, 184(8), 873–880. https://doi.org/10.1164/rccm.201106-0971PP
Todd, Jamie L., David B. Goldstein, Dongliang Ge, Jason Christie, and Scott M. Palmer. “The state of genome-wide association studies in pulmonary disease: a new perspective.Am J Respir Crit Care Med 184, no. 8 (October 15, 2011): 873–80. https://doi.org/10.1164/rccm.201106-0971PP.
Todd JL, Goldstein DB, Ge D, Christie J, Palmer SM. The state of genome-wide association studies in pulmonary disease: a new perspective. Am J Respir Crit Care Med. 2011 Oct 15;184(8):873–80.
Todd, Jamie L., et al. “The state of genome-wide association studies in pulmonary disease: a new perspective.Am J Respir Crit Care Med, vol. 184, no. 8, Oct. 2011, pp. 873–80. Pubmed, doi:10.1164/rccm.201106-0971PP.
Todd JL, Goldstein DB, Ge D, Christie J, Palmer SM. The state of genome-wide association studies in pulmonary disease: a new perspective. Am J Respir Crit Care Med. 2011 Oct 15;184(8):873–880.

Published In

Am J Respir Crit Care Med

DOI

EISSN

1535-4970

Publication Date

October 15, 2011

Volume

184

Issue

8

Start / End Page

873 / 880

Location

United States

Related Subject Headings

  • Respiratory System
  • Respiratory Function Tests
  • Respiration
  • Pulmonary Disease, Chronic Obstructive
  • Lung Diseases
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
  • Asthma
  • 11 Medical and Health Sciences