7 What Have We Learned from GWAS?
179
DIAbetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium (2014) Genome-wide
trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes
susceptibility. Nat Genet 46:234–244
Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB (2010) Rare variants create synthetic
genome-wide associations. PLoS Biol 8:e1000294
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL,
Bouatia-Naji N, Gloyn AL, Lindgren CM et al (2010) New genetic loci implicated in fasting
glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 42:105–116
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH (2010) Missing heritability
and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11:446–450
Emerging Risk Factors Collaboration (2009) Major lipids, apolipoproteins, and risk of vascular
disease. JAMA 302:1993–2000
Eyre-Walker A (2010) Evolution in health and medicine Sackler colloquium: genetic architecture
of a complex trait and its implications for fitness and genome-wide association studies. Proc
Natl Acad Sci USA 107(Suppl 1):1752–1756
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott
KS, Lango H, Rayner NW, Shields B et al (2007) A common variant in the FTO gene is
associated with body mass index and predisposes to childhood and adult obesity. Science
316:889–894
Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen
AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB (2009) Genetic variation in IL28B
predicts hepatitis C treatment-induced viral clearance. Nature 461:399–401
Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus
SJ, Kjaer SK, Hogdall E et al (2008) Multiple loci with different cancer specificities within the
8q24 gene desert. J Natl Cancer Inst 100:962–966
Gibson G (2012) Rare and common variants: twenty arguments. Nat Rev Genet 13:135–145
Global Lipids Genetics Consortium (2013) Discovery and refinement of loci associated with lipid
levels. Nat Genet 45(11):1274–1283
Goldstein DB (2009) Common genetic variation and human traits. N Engl J Med 360:1696–1698
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth
T, Ortmann WA, Hom G et al (2007) Three functional variants of IFN regulatory factor 5 (IRF5)
define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 104:6758–6763
Guey LT, Kravic J, Melander O, Burtt NP, Laramie JM, Lyssenko V, Jonsson A, Lindholm E,
Tuomi T, Isomaa B et al (2011) Power in the phenotypic extremes: a simulation study of power
in discovery and replication of rare variants. Genet Epidemiol 35:236–246
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA (2009)
Potential etiologic and functional implications of genome-wide association loci for human
diseases and traits. Proc Natl Acad Sci USA 106:9362–9367
Hirschhorn JN (2009) Genomewide association studies–illuminating biologic pathways. N Engl J
Med 360:1699–1701
Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and
complex traits. Nat Rev Genet 6:95–108
Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for
the next generation of genome-wide association studies. PLoS Genet 5:e1000529
International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in
diverse human populations. Nature 467:52–58
International HapMap Consortium (2005) A haplotype map of the human genome. Nature
437:1299–1320
International HapMap Consortium (2007) A second generation human haplotype map of over 3.1
million SNPs. Nature 449:851–861
International Schizophrenia Consortium, Purcell SM, Wray NR, Stone JL, Visscher PM,
O’Donovan MC, Sullivan PF, Sklar P (2009) Common polygenic variation contributes to risk
of schizophrenia and bipolar disorder. Nature 460:748–752
179
DIAbetes Genetics Replication and Meta-analysis (DIAGRAM) Consortium (2014) Genome-wide
trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes
susceptibility. Nat Genet 46:234–244
Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein DB (2010) Rare variants create synthetic
genome-wide associations. PLoS Biol 8:e1000294
Dupuis J, Langenberg C, Prokopenko I, Saxena R, Soranzo N, Jackson AU, Wheeler E, Glazer NL,
Bouatia-Naji N, Gloyn AL, Lindgren CM et al (2010) New genetic loci implicated in fasting
glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet 42:105–116
Eichler EE, Flint J, Gibson G, Kong A, Leal SM, Moore JH, Nadeau JH (2010) Missing heritability
and strategies for finding the underlying causes of complex disease. Nat Rev Genet 11:446–450
Emerging Risk Factors Collaboration (2009) Major lipids, apolipoproteins, and risk of vascular
disease. JAMA 302:1993–2000
Eyre-Walker A (2010) Evolution in health and medicine Sackler colloquium: genetic architecture
of a complex trait and its implications for fitness and genome-wide association studies. Proc
Natl Acad Sci USA 107(Suppl 1):1752–1756
Frayling TM, Timpson NJ, Weedon MN, Zeggini E, Freathy RM, Lindgren CM, Perry JR, Elliott
KS, Lango H, Rayner NW, Shields B et al (2007) A common variant in the FTO gene is
associated with body mass index and predisposes to childhood and adult obesity. Science
316:889–894
Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen
AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB (2009) Genetic variation in IL28B
predicts hepatitis C treatment-induced viral clearance. Nature 461:399–401
Ghoussaini M, Song H, Koessler T, Al Olama AA, Kote-Jarai Z, Driver KE, Pooley KA, Ramus
SJ, Kjaer SK, Hogdall E et al (2008) Multiple loci with different cancer specificities within the
8q24 gene desert. J Natl Cancer Inst 100:962–966
Gibson G (2012) Rare and common variants: twenty arguments. Nat Rev Genet 13:135–145
Global Lipids Genetics Consortium (2013) Discovery and refinement of loci associated with lipid
levels. Nat Genet 45(11):1274–1283
Goldstein DB (2009) Common genetic variation and human traits. N Engl J Med 360:1696–1698
Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth
T, Ortmann WA, Hom G et al (2007) Three functional variants of IFN regulatory factor 5 (IRF5)
define risk and protective haplotypes for human lupus. Proc Natl Acad Sci USA 104:6758–6763
Guey LT, Kravic J, Melander O, Burtt NP, Laramie JM, Lyssenko V, Jonsson A, Lindholm E,
Tuomi T, Isomaa B et al (2011) Power in the phenotypic extremes: a simulation study of power
in discovery and replication of rare variants. Genet Epidemiol 35:236–246
Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA (2009)
Potential etiologic and functional implications of genome-wide association loci for human
diseases and traits. Proc Natl Acad Sci USA 106:9362–9367
Hirschhorn JN (2009) Genomewide association studies–illuminating biologic pathways. N Engl J
Med 360:1699–1701
Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and
complex traits. Nat Rev Genet 6:95–108
Howie BN, Donnelly P, Marchini J (2009) A flexible and accurate genotype imputation method for
the next generation of genome-wide association studies. PLoS Genet 5:e1000529
International HapMap 3 Consortium (2010) Integrating common and rare genetic variation in
diverse human populations. Nature 467:52–58
International HapMap Consortium (2005) A haplotype map of the human genome. Nature
437:1299–1320
International HapMap Consortium (2007) A second generation human haplotype map of over 3.1
million SNPs. Nature 449:851–861
International Schizophrenia Consortium, Purcell SM, Wray NR, Stone JL, Visscher PM,
O’Donovan MC, Sullivan PF, Sklar P (2009) Common polygenic variation contributes to risk
of schizophrenia and bipolar disorder. Nature 460:748–752