Further reading


  • Attia J, Ioannidis JP, Thakkinstian A, et al. How to use an article about genetic association. A: Background concepts. JAMA 2009; 301: 74–81.
  • Manolio TA. Genomewide association studies and assessment of the risk of disease. N Engl J Med 2010; 363: 166–176.
  • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature 2009; 461: 747–752.
  • McCarthy M. Genomics, type 2 diabetes, and obesity. N Engl J Med 2010; 363: 2339–2350.
  • McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD). Online Mendelian Inheritance in Man. www.ncbi.nlm.nih.gov/omim
  • National Human Genome Research Institute. A catalog of published genome-wide association studies. www.genome.gov/GWAstudies
  • Nature ENCODE. The encyclopedia of DNA elements. www.nature.com/encode
  • Ober C, Butte AJ, Elias JA. Getting from genes to function in lung disease. A national Heart, Lung, and Blood Institue workshop report. Am J Respir Crit Care Med 2010; 182: 732–737.
  • Soler Artigas M, Wain LV, Tobin MD. Genome-wide association studies in lung disease. Thorax 2012; 67: 271–273.
  • Todd JL, Goldstein DB, Ge D, et al. The state of genome-wide association studies in pulmonary disease. A new perspective. Am J Respir Crit Care Med 2011; 184: 873–880.


  • Borczuk AC, Toonkel RL, Powell CA. Genomics of lung cancer. Proc Am Thorac Soc 2009; 6: 152–158.
  • Hancock DB, Eijgelsheim M, Wilk JB, et al. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat Genet 2010; 42: 45–52.
  • Heist RS, Sequist LV, Engelman JA. Genetic changes in squamous lung cancer: a review. J Thorac Oncol 2012; 7: 924–933.
  • Kabesch M. Novel asthma-associated genes from genome-wide association studies. What is their significance? Chest 2010; 137: 909–915.
  • Moffatt MF, Gut IG, Demenais F, et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010; 363: 1211–1221.
  • Netea MG, van der Meer JW. Immunodeficiency and genetic defects of pattern- recognition receptors. N Engl J Med 2011; 364: 60–70.
  • Silverman EK, Sandhaus RA. Alpha1-antitrypsin deficiency. N Engl J Med 2009; 360: 2749–2757.
  • Soler Artigas M, Loth DW, Wain LV, et al. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat Genet 2011; 43: 1082–1090.

See the entire Genetic Susceptibility Chapter