Hindorff, L.A. et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106, 9362–9367 (2009).
Manolio, T.A. et al. Finding the missing heritability of complex diseases. Nature 461, 747–753 (2009).
Manolio, T.A. Genomewide association studies and assessment of the risk of disease. N. Engl. J. Med. 363, 166–176 (2010).
Yang, J. et al. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42, 565–569 (2010).
Visscher, P.M. et al. Genome partitioning of genetic variation for height from 11,214 sibling pairs. Am. J. Hum. Genet. 81, 1104–1110 (2007).
Rimm, E.B. et al. Prospective study of alcohol consumption and risk of coronary disease in men. Lancet 338, 464–468 (1991).
Colditz, G.A. & Hankinson, S.E. The Nurses' Health Study: lifestyle and health among women. Nat. Rev. Cancer 5, 388–396 (2005).
Psaty, B.M. et al. Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium: design of prospective meta-analyses of genome-wide association studies from 5 cohorts. Circ. Cardiovasc. Genet. 2, 73–80 (2009).
Yang, J., Lee, S.H., Goddard, M.E. & Visscher, P.M. GCTA: a tool for genome-wide complex trait analysis. Am. J. Hum. Genet. 88, 76–82 (2011).
Visscher, P.M., Yang, J. & Goddard, M.E. A commentary on 'common SNPs explain a large proportion of the heritability for human height' by Yang et al. (2010). Twin Res. Hum. Genet. 13, 517–524 (2010).
Willer, C.J. et al. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat. Genet. 41, 25–34 (2009).
Thorleifsson, G. et al. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat. Genet. 41, 18–24 (2009).
Frayling, T.M. et al. A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science 316, 889–894 (2007).
Speliotes, E.K. et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937–948 (2010).
Smith, N.L. et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: the CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) consortium. Circulation 121, 1382–1392 (2010).
Shah, S.H. & Pitt, G.S. Genetics of cardiac repolarization. Nat. Genet. 41, 388–389 (2009).
Preston, A.E. & Barr, A. The plasma concentration of factor viii in the normal population. II. The effects of age, sex and blood group. Br. J. Haematol. 10, 238–245 (1964).
O'Donnell, J., Boulton, F.E., Manning, R.A. & Laffan, M.A. Amount of H antigen expressed on circulating von Willebrand factor is modified by ABO blood group genotype and is a major determinant of plasma von Willebrand factor antigen levels. Arterioscler. Thromb. Vasc. Biol. 22, 335–341 (2002).
Liu, J.Z. et al. A versatile gene-based test for genome-wide association studies. Am. J. Hum. Genet. 87, 139–145 (2010).
Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904–909 (2006).
Price, A.L., Zaitlen, N.A., Reich, D. & Patterson, N. New approaches to population stratification in genome-wide association studies. Nat. Rev. Genet. 11, 459–463 (2010).
Bulmer, M.G. The Mathematical Theory of Quantitative Genetics (Oxford University Press, New York, New York, USA, 1985).
Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832–838 (2010).
Purcell, S.M. et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748–752 (2009).
Magnusson, P.K. & Rasmussen, F. Familial resemblance of body mass index and familial risk of high and low body mass index. A study of young men in Sweden. Int. J. Obes. Relat. Metab. Disord. 26, 1225–1231 (2002).
Schousboe, K. et al. Sex differences in heritability of BMI: a comparative study of results from twin studies in eight countries. Twin Res. 6, 409–421 (2003).
Eyre-Walker, A. Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies. Proc. Natl. Acad. Sci. USA 107, 1752–1756 (2010).
The 1000 Genomes Project Consortium. A map of human genome variation from population-scale sequencing. Nature 467, 1061–1073 (2010).
Dickson, S.P., Wang, K., Krantz, I., Hakonarson, H. & Goldstein, D.B. Rare variants create synthetic genome-wide associations. PLoS Biol. 8, e1000294 (2010).
McClellan, J. & King, M.-C. Genetic heterogeneity in human disease. Cell 141, 210–217 (2010).
Teslovich, T.M. et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 466, 707–713 (2010).
Visscher, P.M., Hill, W.G. & Wray, N.R. Heritability in the genomics era-concepts and misconceptions. Nat. Rev. Genet. 9, 255–266 (2008).
Orstavik, K.H. et al. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am. J. Hum. Genet. 37, 89–101 (1985).
de Lange, M., Snieder, H., Ariens, R.A., Spector, T.D. & Grant, P.J. The genetics of haemostasis: a twin study. Lancet 357, 101–105 (2001).
Dalageorgou, C. et al. Heritability of QT interval: how much is explained by genes for resting heart rate? J. Cardiovasc. Electrophysiol. 19, 386–391 (2008).
Russell, M.W., Law, I., Sholinsky, P. & Fabsitz, R.R. Heritability of ECG measurements in adult male twins. J. Electrocardiol. 30 Suppl, 64–68 (1998).
Qi, L. et al. Genetic variants at 2q24 are associated with susceptibility to type 2 diabetes. Hum. Mol. Genet. 19, 2706–2715 (2010).
Cornelis, M.C. et al. The gene, environment association studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet. Epidemiol. 34, 364–372 (2010).
Laurie, C.C. et al. Quality control and quality assurance in genotypic data for genome-wide association studies. Genet. Epidemiol. 34, 591–602 (2010).
Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559–575 (2007).
Kent, J.W. Jr. Dyer, T.D. & Blangero, J. Estimating the additive genetic effect of the X chromosome. Genet. Epidemiol. 29, 377–388 (2005).
Zhang, Z. et al. Mixed linear model approach adapted for genome-wide association studies. Nat. Genet. 42, 355–360 (2010).
Kang, H.M. et al. Variance component model to account for sample structure in genome-wide association studies. Nat. Genet. 42, 348–354 (2010).