Wilk, J.B. et al. Evidence for major genes influencing pulmonary function in the NHLBI family heart study. Genet. Epidemiol. 19, 81–94 (2000).
Zappala, C.J. et al. Marginal decline in forced vital capacity is associated with a poor outcome in idiopathic pulmonary fibrosis. Eur. Respir. J. 35, 830–836 (2010).
Raghu, G. et al. An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management. Am. J. Respir. Crit. Care Med. 183, 788–824 (2011).
Ashley, F., Kannel, W.B., Sorlie, P.D. & Masson, R. Pulmonary function: relation to aging, cigarette habit, and mortality. Ann. Intern. Med. 82, 739–745 (1975).
Burney, P.G. & Hooper, R. Forced vital capacity, airway obstruction and survival in a general population sample from the USA. Thorax 66, 49–54 (2011).
Lee, H.M., Le, H., Lee, B.T., Lopez, V.A. & Wong, N.D. Forced vital capacity paired with Framingham Risk Score for prediction of all-cause mortality. Eur. Respir. J. 36, 1002–1006 (2010).
Lange, P., Nyboe, J., Appleyard, M., Jensen, G. & Schnohr, P. Spirometric findings and mortality in never-smokers. J. Clin. Epidemiol. 43, 867–873 (1990).
Kannel, W.B., Hubert, H. & Lew, E.A. Vital capacity as a predictor of cardiovascular disease: the Framingham study. Am. Heart J. 105, 311–315 (1983).
Palmer, L.J. et al. Familial aggregation and heritability of adult lung function: results from the Busselton Health Study. Eur. Respir. J. 17, 696–702 (2001).
van Putte-Katier, N. et al. Relationship between parental lung function and their children's lung function early in life. Eur. Respir. J. 38, 664–671 (2011).
Wilk, J.B. et al. A genome-wide association study of pulmonary function measures in the Framingham Heart Study. PLoS Genet. 5, e1000429 (2009).
Repapi, E. et al. Genome-wide association study identifies five loci associated with lung function. Nat. Genet. 42, 36–44 (2010).
Hancock, D.B. et al. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. Nat. Genet. 42, 45–52 (2010).
Soler Artigas, M. et al. Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function. Nat. Genet. 43, 1082–1090 (2011).
Sung, J. et al. The Korean Twin Registry—methods, current stage, and interim results. Twin Res. 5, 394–400 (2002).
Sung, J. et al. Healthy Twin: a twin-family study of Korea—protocols and current status. Twin Res. Hum. Genet. 9, 844–848 (2006).
Gombojav, B. et al. The Healthy Twin Study, Korea updates: resources for omics and genome epidemiology studies. Twin Res. Hum. Genet. 16, 241–245 (2013).
Cho, Y.S. et al. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet. 41, 527–534 (2009).
Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997–1004 (1999).
1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010).
Nyholt, D.R. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am. J. Hum. Genet. 74, 765–769 (2004).
Li, J. & Ji, L. Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity (Edinb.) 95, 221–227 (2005).
Musunuru, K. et al. Candidate gene association resource (CARe): design, methods, and proof of concept. Circ Cardiovasc Genet 3, 267–275 (2010).
Carlson, C.S. et al. Generalization and dilution of association results from European GWAS in populations of non-European ancestry: the PAGE study. PLoS Biol. 11, e1001661 (2013).
Zhang, K., Cui, S., Chang, S., Zhang, L. & Wang, J. i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study. Nucleic Acids Res. 38, W90–W95 (2010).
Dixon, A.L. et al. A genome-wide association study of global gene expression. Nat. Genet. 39, 1202–1207 (2007).
Gibbs, J.R. et al. Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet. 6, e1000952 (2010).
Dimas, A.S. et al. Common regulatory variation impacts gene expression in a cell type–dependent manner. Science 325, 1246–1250 (2009).
Genotype-Tissue Expression Consortium. The Genotype-Tissue Expression (GTEx) project. Nat. Genet. 45, 580–585 (2013).
Boyle, A.P. et al. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res. 22, 1790–1797 (2012).
Gottlieb, D.J. et al. Heritability of longitudinal change in lung function. The Framingham study. Am. J. Respir. Crit. Care Med. 164, 1655–1659 (2001).
Park, J.H. et al. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat. Genet. 42, 570–575 (2010).
Eichler, E.E. et al. Missing heritability and strategies for finding the underlying causes of complex disease. Nat. Rev. Genet. 11, 446–450 (2010).
Hancock, D.B. et al. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. PLoS Genet. 8, e1003098 (2012).
Yang, J. et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat. Genet. 44, 369–375 (2012).
Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832–838 (2010).
Sountoulidis, A. et al. Activation of the canonical Bone Morphogenetic Protein (BMP) pathway during lung morphogenesis and adult lung tissue repair. PLoS ONE 7, e41460 (2012).
Rosendahl, A. et al. Activation of bone morphogenetic protein/Smad signaling in bronchial epithelial cells during airway inflammation. Am. J. Respir. Cell Mol. Biol. 27, 160–169 (2002).
McLaughlin, P.J. et al. Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol. Cell. Biol. 26, 1700–1709 (2006).
de Boer, W.I. et al. Transforming growth factor β1 and recruitment of macrophages and mast cells in airways in chronic obstructive pulmonary disease. Am. J. Respir. Crit. Care Med. 158, 1951–1957 (1998).
Takizawa, H. et al. Increased expression of transforming growth factor-β1 in small airway epithelium from tobacco smokers and patients with chronic obstructive pulmonary disease (COPD). Am. J. Respir. Crit. Care Med. 163, 1476–1483 (2001).
Kimura, M. et al. Bmi1 regulates cell fate via tumor suppressor WWOX repression in small-cell lung cancer cells. Cancer Sci. 102, 983–990 (2011).
Uhlen, M. et al. Towards a knowledge-based Human Protein Atlas. Nat. Biotechnol. 28, 1248–1250 (2010).
Weiss, S.T. Lung function and airway diseases. Nat. Genet. 42, 14–16 (2010).
Elks, C.E. et al. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nat. Genet. 42, 1077–1085 (2010).
Lindgren, C.M. et al. Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution. PLoS Genet. 5, e1000508 (2009).
Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol. 34, 816–834 (2010).
Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat. Genet. 39, 906–913 (2007).
Browning, B.L. & Browning, S.R. A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am. J. Hum. Genet. 84, 210–223 (2009).
Browning, S.R. & Browning, B.L. High-resolution detection of identity by descent in unrelated individuals. Am. J. Hum. Genet. 86, 526–539 (2010).
Servin, B. & Stephens, M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet. 3, e114 (2007).
Willer, C.J., Li, Y. & Abecasis, G.R. METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics 26, 2190–2191 (2010).
R Development Core Team. R: A Language and Environement for Statistical Computing (R Foundation for Statistical Computing, Vienna, 2009).
Lettre, G. et al. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet. 7, e1001300 (2011).
Cheverud, J.M. A simple correction for multiple comparisons in interval mapping genome scans. Heredity (Edinb.) 87, 52–58 (2001).
Hofman, A. et al. The Rotterdam Study: 2012 objectives and design update. Eur. J. Epidemiol. 26, 657–686 (2011).
Westra, H.J. et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45, 1238–1243 (2013).
Hodge, E. et al. HTR4 gene structure and altered expression in the developing lung. Respir. Res. 14, 77 (2013).
Melén, E. et al. Expression analysis of asthma candidate genes during human and murine lung development. Respir. Res. 12, 86 (2011).
Kho, A.T. et al. Transcriptomic analysis of human lung development. Am. J. Respir. Crit. Care Med. 181, 54–63 (2010).