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Volumn 14, Issue , 2013, Pages 441-465

The power of meta-analysis in genome-wide association studies

Author keywords

Common variants; Consortium; Gene discovery; Missing heritability; Rare variants; Sample size; Variance explained

Indexed keywords

ALANINE AMINOTRANSFERASE; ALKALINE PHOSPHATASE; CAFFEINE; CALCIUM;

EID: 84884345860     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-091212-153520     Document Type: Review
Times cited : (99)

References (104)
  • 1
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consort
    • -1000 Genomes Project Consort. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061-73
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 2
  • 3
    • 79851468862 scopus 로고    scopus 로고
    • Synthetic associations are unlikely to account for many common disease genome-wide association signals
    • Anderson CA, Soranzo N, Zeggini E, Barrett JC. 2011. Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol. 9:e1000580
    • (2011) PLoS Biol , vol.9
    • Anderson, C.A.1    Soranzo, N.2    Zeggini, E.3    Barrett, J.C.4
  • 4
    • 77958088279 scopus 로고    scopus 로고
    • Rare variant association analysis methods for complex traits
    • Asimit J, Zeggini E. 2010. Rare variant association analysis methods for complex traits. Annu. Rev. Genet. 44:293-308
    • (2010) Annu. Rev. Genet , vol.44 , pp. 293-308
    • Asimit, J.1    Zeggini, E.2
  • 5
    • 58149161560 scopus 로고    scopus 로고
    • Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
    • Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, et al. 2009. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Nat. Genet. 41:47-55
    • (2009) Nat. Genet , vol.41 , pp. 47-55
    • Aulchenko, Y.S.1    Ripatti, S.2    Lindqvist, I.3    Boomsma, D.4    Heid, I.M.5
  • 6
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, et al. 2008. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat. Genet. 40:955-62
    • (2008) Nat. Genet , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3    Cho, J.H.4    Duerr, R.H.5
  • 7
    • 73149103718 scopus 로고    scopus 로고
    • Prioritizing GWAS results: A review of statistical methods and recommendations for their application
    • Cantor RM, Lange K, Sinsheimer JS. 2010. Prioritizing GWAS results: A review of statistical methods and recommendations for their application. Am. J. Hum. Genet. 86:6-22
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 6-22
    • Cantor, R.M.1    Lange, K.2    Sinsheimer, J.S.3
  • 8
    • 84856117436 scopus 로고    scopus 로고
    • Genome-wide association study of body height in african americans: Thewomen's health initiative snp health association resource (share
    • Carty CL, Johnson NA, Hutter CM, Reiner AP, Peters U, et al. 2012. Genome-wide association study of body height in African Americans: TheWomen's Health Initiative SNP Health Association Resource (SHARe). Hum. Mol. Genet. 21:711-20
    • (2012) Hum. Mol. Genet , vol.21 , pp. 711-720
    • Carty, C.L.1    Johnson, N.A.2    Hutter, C.M.3    Reiner, A.P.4    Peters, U.5
  • 10
    • 73649103089 scopus 로고    scopus 로고
    • Forty-Three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis
    • Chasman DI, Pare G, Mora S, Hopewell JC, Peloso G, et al. 2009. Forty-Three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet. 5:e1000730
    • (2009) PLoS Genet , vol.5
    • Chasman, D.I.1    Pare, G.2    Mora, S.3    Hopewell, J.C.4    Peloso, G.5
  • 11
    • 67349188883 scopus 로고    scopus 로고
    • A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
    • Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, et al. 2009. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat. Genet. 41:527-34
    • (2009) Nat. Genet , vol.41 , pp. 527-534
    • Cho, Y.S.1    Go, M.J.2    Kim, Y.J.3    Heo, J.Y.4    Oh, J.H.5
  • 12
    • 13944265645 scopus 로고    scopus 로고
    • Low ldl cholesterol in individuals of african descent resulting from frequent nonsense mutations in pcsk9
    • Cohen J, Pertsemlidis A, Kotowski IK, Graham R, Garcia CK, Hobbs HH. 2005. Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9. Nat. Genet. 37:161-65
    • (2005) Nat. Genet , vol.37 , pp. 161-165
    • Cohen, J.1    Pertsemlidis, A.2    Kotowski, I.K.3    Graham, R.4    Garcia, C.K.5    Hobbs, H.H.6
  • 13
    • 0037426052 scopus 로고    scopus 로고
    • Problems of reporting genetic associations with complex outcomes
    • Colhoun HM, McKeigue PM, Davey Smith G. 2003. Problems of reporting genetic associations with complex outcomes. Lancet 361:865-72
    • (2003) Lancet , vol.361 , pp. 865-872
    • Colhoun, H.M.1    McKeigue, P.M.2    Davey Smith, G.3
  • 16
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceriDe Levels
    • Diabetes Genet Initiat. Broad Inst. Harv. MITLund Univ. Novartis Inst. BioMed. Res
    • Diabetes Genet. Initiat. Broad Inst. Harv. MIT, Lund Univ., Novartis Inst. BioMed. Res., Saxena R, Voight BF, et al. 2007. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceriDe Levels. Science 316:1331-36
    • (2007) Science , vol.316 , pp. 1331-1336
    • Saxena, R.1    Voight, B.F.2
  • 18
    • 33749667971 scopus 로고    scopus 로고
    • Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: A large-scale international study
    • Elbaz A, Nelson LM, Payami H, Ioannidis JPA, Fiske BK, et al. 2006. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: A large-scale international study. Lancet Neurol. 5:917-23
    • (2006) Lancet Neurol , vol.5 , pp. 917-923
    • Elbaz, A.1    Nelson, L.M.2    Payami, H.3    Ioannidis, J.P.A.4    Fiske, B.K.5
  • 19
    • 34347364119 scopus 로고    scopus 로고
    • Meta-Analysis in genome-wide association datasets: Strategies and application in Parkinson disease
    • Evangelou E, Maraganore DM, Ioannidis JPA. 2007. Meta-Analysis in genome-wide association datasets: Strategies and application in Parkinson disease. PLoS ONE 2:e196
    • (2007) PLoS ONE , vol.2
    • Evangelou, E.1    Maraganore, D.M.2    Ioannidis, J.P.A.3
  • 20
    • 78649469071 scopus 로고    scopus 로고
    • Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
    • Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. 2010. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat. Genet. 42:1049-51
    • (2010) Nat. Genet , vol.42 , pp. 1049-1051
    • Galarneau, G.1    Palmer, C.D.2    Sankaran, V.G.3    Orkin, S.H.4    Hirschhorn, J.N.5    Lettre, G.6
  • 21
    • 84859731474 scopus 로고    scopus 로고
    • Methods formeta-Analyses of genome-wide association studies: Critical assessment of empirical evidence
    • Gogele M, Minelli C, Thakkinstian A, Yurkiewich A, Pattaro C, et al. 2012. Methods formeta-Analyses of genome-wide association studies: Critical assessment of empirical evidence. Am. J. Epidemiol. 175:739-49
    • (2012) Am. J. Epidemiol , vol.175 , pp. 739-749
    • Gogele, M.1    Minelli, C.2    Thakkinstian, A.3    Yurkiewich, A.4    Pattaro, C.5
  • 22
    • 65949107547 scopus 로고    scopus 로고
    • Common genetic variation and human traits
    • Goldstein DB. 2009. Common genetic variation and human traits. N. Engl. J. Med. 360:1696-98
    • (2009) N. Engl. J. Med , vol.360 , pp. 1696-1698
    • Goldstein, D.B.1
  • 23
    • 84867293769 scopus 로고    scopus 로고
    • ZCall: A rare variant caller for array-based genotyping: Genetics and population analysis
    • Goldstein JI, Crenshaw A, Carey J, Grant GB, Maguire J, et al. 2012. zCall: A rare variant caller for array-based genotyping: Genetics and population analysis. Bioinformatics 28:2543-45
    • (2012) Bioinformatics , vol.28 , pp. 2543-2545
    • Goldstein, J.I.1    Crenshaw, A.2    Carey, J.3    Grant, G.B.4    Maguire, J.5
  • 24
    • 79953715693 scopus 로고    scopus 로고
    • Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel
    • González-Pérez A, López-Bigas N. 2011. Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am. J. Hum. Genet. 88:440-49
    • (2011) Am. J. Hum. Genet , vol.88 , pp. 440-449
    • González-Pérez, A.1    López-Bigas, N.2
  • 26
    • 34247482327 scopus 로고    scopus 로고
    • Multiple regions within 8q24 independently affect risk for prostate cancer
    • Haiman CA, Patterson N, FreedmanML, Myers SR, Pike MC, et al. 2007. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat. Genet. 39:638-44
    • (2007) Nat. Genet , vol.39 , pp. 638-644
    • Haiman, C.A.1    Patterson, N.2    Freedman, M.L.3    Myers, S.R.4    Pike, M.C.5
  • 27
    • 79955860273 scopus 로고    scopus 로고
    • Random-effects model aimed at discovering associations in meta-Analysis of genome-wide association studies
    • Han B, Eskin E. 2011. Random-effects model aimed at discovering associations in meta-Analysis of genome-wide association studies. Am. J. Hum. Genet. 88:586-98
    • (2011) Am. J. Hum. Genet , vol.88 , pp. 586-598
    • Han, B.1    Eskin, E.2
  • 29
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, et al. 2009. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. USA 106:9362-67
    • (2009) Proc. Natl. Acad. Sci. USA , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1    Sethupathy, P.2    Junkins, H.A.3    Ramos, E.M.4    Mehta, J.P.5
  • 30
    • 65949124249 scopus 로고    scopus 로고
    • Genomewide association studies-illuminating biologic pathways
    • Hirschhorn JN. 2009. Genomewide association studies-illuminating biologic pathways. N. Engl. J. Med. 360:1699-701
    • (2009) N. Engl. J. Med , vol.360 , pp. 1699-1701
    • Hirschhorn, J.N.1
  • 31
    • 0035978651 scopus 로고    scopus 로고
    • Association ofnod2 leucine-rich repeat variants with susceptibility to crohn's disease
    • Hugot JP, ChamaillardM, Zouali H, Lesage S, Cezard JP, et al. 2001. Association ofNOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1    Chamaillard, M.2    Zouali, H.3    Lesage, S.4    Cezard, J.P.5
  • 32
    • 80053907554 scopus 로고    scopus 로고
    • Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk
    • Int. Consort. Blood Press. Genome-Wide Assoc. Stud
    • Int. Consort. Blood Press. Genome-Wide Assoc. Stud. 2011. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478:103-9
    • (2011) Nature , vol.478 , pp. 103-109
  • 33
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • Int. HapMap Consort
    • Int. HapMap Consort. 2005. A haplotype map of the human genome. Nature 437:1299-320
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 34
    • 35348983887 scopus 로고    scopus 로고
    • A second generation human haplotype map of over 3.1 million SNPs
    • Int. HapMap Consort
    • Int. HapMap Consort. 2007. A second generation human haplotype map of over 3.1 million SNPs. Nature 449:851-61
    • (2007) Nature , vol.449 , pp. 851-861
  • 35
    • 77956331627 scopus 로고    scopus 로고
    • Integrating common and rare genetic variation in diverse human populations
    • Int HapMap 3 Consort
    • Int. HapMap 3 Consort. 2010. Integrating common and rare genetic variation in diverse human populations. Nature 467:52-58
    • (2010) Nature , vol.467 , pp. 52-58
  • 36
    • 34447129720 scopus 로고    scopus 로고
    • Non-replication and inconsistency in the genome-wide association setting
    • Ioannidis JPA. 2007. Non-replication and inconsistency in the genome-wide association setting. Hum. Hered. 64:203-13
    • (2007) Hum. Hered , vol.64 , pp. 203-213
    • Ioannidis, J.P.A.1
  • 39
    • 79957789708 scopus 로고    scopus 로고
    • Comparison of effect sizes associated with biomarkers reported in highly cited individual articles and in subsequent meta-Analyses
    • Ioannidis JPA, Panagiotou OA. 2011. Comparison of effect sizes associated with biomarkers reported in highly cited individual articles and in subsequent meta-Analyses. JAMA 305:2200-10
    • (2011) JAMA , vol.305 , pp. 2200-2210
    • Ioannidis, J.P.A.1    Panagiotou, O.A.2
  • 40
    • 41049087605 scopus 로고    scopus 로고
    • Heterogeneity in meta-Analyses of genomewide association investigations
    • Ioannidis JPA, Patsopoulos NA, Evangelou E. 2007. Heterogeneity in meta-Analyses of genomewide association investigations. PLoS ONE 2:e841
    • (2007) PLoS ONE , vol.2
    • Ioannidis, J.P.A.1    Patsopoulos, N.A.2    Evangelou, E.3
  • 41
    • 80051552041 scopus 로고    scopus 로고
    • The false-positive to false-negative ratio in epidemiologic studies
    • Ioannidis JPA, Tarone R, McLaughlin JK. 2011. The false-positive to false-negative ratio in epidemiologic studies. Epidemiology 22:450-56
    • (2011) Epidemiology , vol.22 , pp. 450-456
    • Ioannidis, J.P.A.1    Tarone, R.2    McLaughlin, J.K.3
  • 42
    • 65249164859 scopus 로고    scopus 로고
    • Validating, augmenting and refining genome-wide association signals
    • Ioannidis JPA, ThomasG, Daly MJ. 2009. Validating, augmenting and refining genome-wide association signals. Nat. Rev. Genet. 10:318-29
    • (2009) Nat. Rev. Genet , vol.10 , pp. 318-329
    • Ioannidis, J.P.A.1    Thomas, G.2    Daly, M.J.3
  • 43
    • 58049206782 scopus 로고    scopus 로고
    • Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis
    • Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, et al. 2009. Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis. Hum. Mol. Genet. 18:373-80
    • (2009) Hum. Mol. Genet , vol.18 , pp. 373-380
    • Johansson, A.1    Marroni, F.2    Hayward, C.3    Franklin, C.S.4    Kirichenko, A.V.5
  • 44
    • 33750211858 scopus 로고    scopus 로고
    • A gene-centric approach to genome-wide association studies
    • Jorgenson E, Witte JS. 2006. A gene-centric approach to genome-wide association studies. Nat. Rev. Genet. 7:885-91
    • (2006) Nat. Rev. Genet , vol.7 , pp. 885-891
    • Jorgenson, E.1    Witte, J.S.2
  • 45
    • 38649132270 scopus 로고    scopus 로고
    • Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    • Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, et al. 2008. Six new loci associated with blood low-Density lipoprotein cholesterol, high-Density lipoprotein cholesterol or triglycerides in humans. Nat. Genet. 40:189-97
    • (2008) Nat. Genet , vol.40 , pp. 189-197
    • Kathiresan, S.1    Melander, O.2    Guiducci, C.3    Surti, A.4    Burtt, N.P.5
  • 47
    • 79957585975 scopus 로고    scopus 로고
    • Meta-Analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east asians
    • Kato N, Takeuchi F, Tabara Y, Kelly TN, GoMJ, et al. 2011. Meta-Analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. Nat. Genet. 43:531-38
    • (2011) Nat. Genet , vol.43 , pp. 531-538
    • Kato, N.1    Takeuchi, F.2    Tabara, Y.3    Kelly, T.N.4    Go, M.J.5
  • 49
    • 80053384809 scopus 로고    scopus 로고
    • Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits
    • Kim YJ, Go MJ, Hu C, Hong CB, Kim YK, et al. 2011. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. Nat. Genet. 43:990-95
    • (2011) Nat. Genet , vol.43 , pp. 990-995
    • Kim, Y.J.1    Go, M.J.2    Hu, C.3    Hong, C.B.4    Kim, Y.K.5
  • 51
    • 38649084407 scopus 로고    scopus 로고
    • Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
    • Kooner JS, Chambers JC, Aguilar-Salinas CA, Hinds DA, Hyde CL, et al. 2008. Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides. Nat. Genet. 40:149-51
    • (2008) Nat. Genet , vol.40 , pp. 149-151
    • Kooner, J.S.1    Chambers, J.C.2    Aguilar-Salinas, C.A.3    Hinds, D.A.4    Hyde, C.L.5
  • 52
    • 77955144299 scopus 로고    scopus 로고
    • Replication in genome-wide association studies
    • Kraft P, Zeggini E, Ioannidis JPA. 2009. Replication in genome-wide association studies. Stat. Sci. 24:561-73
    • (2009) Stat. Sci , vol.24 , pp. 561-573
    • Kraft, P.1    Zeggini, E.2    Ioannidis, J.P.A.3
  • 53
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P, Henikoff S, Ng PC. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4:1073-81
    • (2009) Nat. Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 54
    • 77957947562 scopus 로고    scopus 로고
    • Hundreds of variants clustered in genomic loci and biological pathways affect human height
    • Lango AllenH, Estrada K, LettreG, Berndt SI, Weedon MN, et al. 2010. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467:832-38
    • (2010) Nature , vol.467 , pp. 832-838
    • Lango Allen, H.1    Estrada, K.2    Lettre, G.3    Berndt, S.I.4    Weedon, M.N.5
  • 56
    • 84864953892 scopus 로고    scopus 로고
    • Optimal tests for rare variant effects in sequencing association studies
    • Lee S, Wu MC, Lin X. 2012. Optimal tests for rare variant effects in sequencing association studies. Biostatistics 13:762-75
    • (2012) Biostatistics , vol.13 , pp. 762-775
    • Lee, S.1    Wu, M.C.2    Lin, X.3
  • 57
    • 42649092874 scopus 로고    scopus 로고
    • Identification of ten loci associated with height highlights new biological pathways in human growth
    • Lettre G, Jackson AU, Gieger C, Schumacher FR, Berndt SI, et al. 2008. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet. 40:584-91
    • (2008) Nat. Genet , vol.40 , pp. 584-591
    • Lettre, G.1    Jackson, A.U.2    Gieger, C.3    Schumacher, F.R.4    Berndt, S.I.5
  • 58
    • 79952262430 scopus 로고    scopus 로고
    • Genome-wide association study of coronary heart disease and its risk factors in 8,090 african americans: The nhlbi care project
    • Lettre G, Palmer CD, Young T, Ejebe KG, Allayee H, et al. 2011. 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) PLoS Genet , vol.7
    • Lettre, G.1    Palmer, C.D.2    Young, T.3    Ejebe, K.G.4    Allayee, H.5
  • 59
    • 67349208839 scopus 로고    scopus 로고
    • Genome-wide association study of blood pressure and hypertension
    • Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, et al. 2009. Genome-wide association study of blood pressure and hypertension. Nat. Genet. 41:677-87
    • (2009) Nat. Genet , vol.41 , pp. 677-687
    • Levy, D.1    Ehret, G.B.2    Rice, K.3    Verwoert, G.C.4    Launer, L.J.5
  • 60
    • 50949095168 scopus 로고    scopus 로고
    • Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data
    • Li B, Leal SM. 2008. Methods for detecting associations with rare variants for common diseases: Application to analysis of sequence data. Am. J. Hum. Genet. 83:311-21
    • (2008) Am. J. Hum. Genet , vol.83 , pp. 311-321
    • Li, B.1    Leal, S.M.2
  • 62
    • 77952851091 scopus 로고    scopus 로고
    • On the relative efficiency of using summary statistics versus individual-level data in meta-Analysis
    • Lin DY, Zeng D. 2010. On the relative efficiency of using summary statistics versus individual-level data in meta-Analysis. Biometrika 97:321-32
    • (2010) Biometrika , vol.97 , pp. 321-332
    • Lin, D.Y.1    Zeng, D.2
  • 63
    • 0037312921 scopus 로고    scopus 로고
    • Meta-Analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • Lohmueller KE, Pearce CL, Pike M, Lander ES, Hirschhorn JN. 2003. Meta-Analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet. 33:177-82
    • (2003) Nat. Genet , vol.33 , pp. 177-182
    • Lohmueller, K.E.1    Pearce, C.L.2    Pike, M.3    Lander, E.S.4    Hirschhorn, J.N.5
  • 65
    • 84869131540 scopus 로고    scopus 로고
    • Genome-wide association analysis of imputed rare variants: Application to seven common complex diseases
    • Mägi R, Asimit JL, Day-Williams AG, Zeggini E, Morris AP. 2012. Genome-wide association analysis of imputed rare variants: Application to seven common complex diseases. Genet. Epidemiol. 36:785-96
    • (2012) Genet. Epidemiol , vol.36 , pp. 785-796
    • Mägi, R.1    Asimit, J.L.2    Day-Williams, A.G.3    Zeggini, E.4    Morris, A.P.5
  • 66
    • 43049146524 scopus 로고    scopus 로고
    • A hapmap harvest of insights into the genetics of common disease
    • Manolio TA, Brooks LD, Collins FS. 2008. A HapMap harvest of insights into the genetics of common disease. J. Clin. Investig. 118:1590-605
    • (2008) J. Clin. Investig , vol.118 , pp. 1590-1605
    • Manolio, T.A.1    Brooks, L.D.2    Collins, F.S.3
  • 69
    • 84865822182 scopus 로고    scopus 로고
    • Systematic localization of common disease-Associated variation in regulatory DNA
    • Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, et al. 2012. Systematic localization of common disease-Associated variation in regulatory DNA. Science 337:1190-95
    • (2012) Science , vol.337 , pp. 1190-1195
    • Maurano, M.T.1    Humbert, R.2    Rynes, E.3    Thurman, R.E.4    Haugen, E.5
  • 70
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: Consensus, uncertainty and challenges
    • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. 2008. Genome-wide association studies for complex traits: Consensus, uncertainty and challenges. Nat. Rev. Genet. 9:356-69
    • (2008) Nat. Rev. Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5
  • 71
    • 77955499945 scopus 로고    scopus 로고
    • From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
    • Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, et al. 2010. From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus. Nature 466:714-19
    • (2010) Nature , vol.466 , pp. 714-719
    • Musunuru, K.1    Strong, A.2    Frank-Kamenetsky, M.3    Lee, N.E.4    Ahfeldt, T.5
  • 72
    • 80055080761 scopus 로고    scopus 로고
    • Identification, replication, and finemapping of loci associated with adult height in individuals of African ancestry
    • N'Diaye A, Chen GK, Palmer CD, Ge B, Tayo B, et al. 2011. Identification, replication, and finemapping of loci associated with adult height in individuals of African ancestry. PLoS Genet. 7:e1002298
    • (2011) PLoS Genet , vol.7
    • N'Diaye, A.1    Chen, G.K.2    Palmer, C.D.3    Ge, B.4    Tayo, B.5
  • 73
    • 65249131713 scopus 로고    scopus 로고
    • Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes
    • Nejentsev S, Walker N, Riches D, EgholmM, Todd JA. 2009. Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387-89
    • (2009) Science , vol.324 , pp. 387-389
    • Nejentsev, S.1    Walker, N.2    Riches, D.3    Egholm, M.4    Todd, J.A.5
  • 74
    • 67349085063 scopus 로고    scopus 로고
    • Genome-wide association study identifies eight loci associated with blood pressure
    • Newton-Cheh C, Johnson T, Gateva V, Tobin MD, Bochud M, et al. 2009. Genome-wide association study identifies eight loci associated with blood pressure. Nat. Genet. 41:666-76
    • (2009) Nat. Genet , vol.41 , pp. 666-676
    • Newton-Cheh, C.1    Johnson, T.2    Gateva, V.3    Tobin, M.D.4    Bochud, M.5
  • 75
  • 76
    • 77958097816 scopus 로고    scopus 로고
    • Genome-wide significant associations for variants with minor allele frequency of 5% or less-An overview: A HuGE review
    • Panagiotou OA, Evangelou E, Ioannidis JPA. 2010. Genome-wide significant associations for variants with minor allele frequency of 5% or less-An overview: A HuGE review. Am. J. Epidemiol. 172:869-89
    • (2010) Am. J. Epidemiol , vol.172 , pp. 869-889
    • Panagiotou, O.A.1    Evangelou, E.2    Ioannidis, J.P.A.3
  • 77
    • 84863338087 scopus 로고    scopus 로고
    • What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations
    • Genome-Wide Signif. Proj
    • Panagiotou OA, Ioannidis JPA, Genome-Wide Signif. Proj. 2012. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. Int. J. Epidemiol. 41:273-86
    • (2012) Int. J. Epidemiol , vol.41 , pp. 273-286
    • Panagiotou, O.A.1    Ioannidis, J.P.A.2
  • 78
    • 77954133026 scopus 로고    scopus 로고
    • Estimation of effect size distribution from genome-wide association studies and implications for future discoveries
    • Park JH, Wacholder S, Gail MH, Peters U, Jacobs KB, et al. 2010. Estimation of effect size distribution from genome-wide association studies and implications for future discoveries. Nat. Genet. 42:570-75
    • (2010) Nat. Genet , vol.42 , pp. 570-575
    • Park, J.H.1    Wacholder, S.2    Gail, M.H.3    Peters, U.4    Jacobs, K.B.5
  • 79
    • 43249125992 scopus 로고    scopus 로고
    • Estimation of the multiple testing burden for genomewide association studies of nearly all common variants
    • Pe'er I, Yelensky R, Altshuler D, Daly MJ. 2008. Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet. Epidemiol. 32:381-85
    • (2008) Genet. Epidemiol , vol.32 , pp. 381-385
    • Pe'er, I.1    Yelensky, R.2    Altshuler, D.3    Daly, M.J.4
  • 80
    • 70350700502 scopus 로고    scopus 로고
    • Discovery properties of genomewide association signals from cumulatively combined data sets
    • Pereira TV, Patsopoulos NA, Salanti G, Ioannidis JPA. 2009. Discovery properties of genomewide association signals from cumulatively combined data sets. Am. J. Epidemiol. 170:1197-206
    • (2009) Am. J. Epidemiol , vol.170 , pp. 1197-1206
    • Pereira, T.V.1    Patsopoulos, N.A.2    Salanti, G.3    Ioannidis, J.P.A.4
  • 81
    • 70350220595 scopus 로고    scopus 로고
    • Genotyping technologies for genetic research
    • Ragoussis J. 2009. Genotyping technologies for genetic research. Annu. Rev. Genomics Hum. Genet. 10:117-33
    • (2009) Annu. Rev. Genomics Hum. Genet , vol.10 , pp. 117-133
    • Ragoussis, J.1
  • 82
    • 67651205715 scopus 로고    scopus 로고
    • Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions
    • Int. Schizophr. Consort
    • Raychaudhuri S, Plenge RM, Rossin EJ, Ng AC, Int. Schizophr. Consort., et al. 2009. Identifying relationships among genomic disease regions: Predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet. 5:e1000534
    • (2009) PLoS Genet , vol.5
    • Raychaudhuri, S.1    Plenge, R.M.2    Rossin, E.J.3    Ng, A.C.4
  • 83
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich DE, Lander ES. 2001. On the allelic spectrum of human disease. Trends Genet. 17:502-10
    • (2001) Trends Genet , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 84
    • 38649121127 scopus 로고    scopus 로고
    • Common variants in the GDF5-UQCC region are associated with variation in human height
    • Sanna S, Jackson AU, Nagaraja R, Willer CJ, Chen WM, et al. 2008. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat. Genet. 40:198-203
    • (2008) Nat. Genet , vol.40 , pp. 198-203
    • Sanna, S.1    Jackson, A.U.2    Nagaraja, R.3    Willer, C.J.4    Chen, W.M.5
  • 85
    • 79960943621 scopus 로고    scopus 로고
    • Fine mapping of five loci associated with low-Density lipoprotein cholesterol detects variants that double the explained heritability
    • Sanna S, Li B, Mulas A, Sidore C, Kang HM, et al. 2011. Fine mapping of five loci associated with low-Density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet. 7:e1002198
    • (2011) PLoS Genet , vol.7
    • Sanna, S.1    Li, B.2    Mulas, A.3    Sidore, C.4    Kang, H.M.5
  • 86
    • 33845721725 scopus 로고    scopus 로고
    • The emergence of networks in human genome epidemiology: Challenges and opportunities
    • Seminara D, KhouryMJ, O'Brien TR, Manolio T, GwinnML, et al. 2007. The emergence of networks in human genome epidemiology: Challenges and opportunities. Epidemiology 18:1-8
    • (2007) Epidemiology , vol.18 , pp. 1-8
    • Seminara, D.1    Khoury, M.J.2    O'Brien, T.R.3    Manolio, T.4    Gwinn, M.L.5
  • 87
  • 88
    • 66349084139 scopus 로고    scopus 로고
    • Meta-Analysis of genome-wide scans for human adult stature identifies novel loci and associations with measures of skeletal frame size
    • Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB, et al. 2009. Meta-Analysis of genome-wide scans for human adult stature identifies novel loci and associations with measures of skeletal frame size. PLoS Genet. 5:e1000445
    • (2009) PLoS Genet , vol.5
    • Soranzo, N.1    Rivadeneira, F.2    Chinappen-Horsley, U.3    Malkina, I.4    Richards, J.B.5
  • 89
    • 84860333083 scopus 로고    scopus 로고
    • Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis
    • Stahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, et al. 2012. Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis. Nat. Genet. 44:483-89
    • (2012) Nat. Genet , vol.44 , pp. 483-489
    • Stahl, E.A.1    Wegmann, D.2    Trynka, G.3    Gutierrez-Achury, J.4    Do, R.5
  • 92
    • 70449334180 scopus 로고    scopus 로고
    • Genetic variation in GPR133 is associated with height: Genome wide association study in the self-contained population of Sorbs
    • Tonjes A, Koriath M, Schleinitz D, Dietrich K, Bottcher Y, et al. 2009. Genetic variation in GPR133 is associated with height: Genome wide association study in the self-contained population of Sorbs. Hum. Mol. Genet. 18:4662-68
    • (2009) Hum. Mol. Genet , vol.18 , pp. 4662-4668
    • Tonjes, A.1    Koriath, M.2    Schleinitz, D.3    Dietrich, K.4    Bottcher, Y.5
  • 94
    • 42649139571 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies 20 loci that influence adult height
    • Weedon MN, Lango H, Lindgren CM, Wallace C, Evans DM, et al. 2008. Genome-wide association analysis identifies 20 loci that influence adult height. Nat. Genet. 40:575-83
    • (2008) Nat. Genet , vol.40 , pp. 575-583
    • Weedon, M.N.1    Lango, H.2    Lindgren, C.M.3    Wallace, C.4    Evans, D.M.5
  • 95
    • 34748830310 scopus 로고    scopus 로고
    • A common variant of HMGA2 is associated with adult and childhood height in the general population
    • Weedon MN, Lettre G, Freathy RM, Lindgren CM, Voight BF, et al. 2007. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat. Genet. 39:1245-50
    • (2007) Nat. Genet , vol.39 , pp. 1245-1250
    • Weedon, M.N.1    Lettre, G.2    Freathy, R.M.3    Lindgren, C.M.4    Voight, B.F.5
  • 96
    • 33847022334 scopus 로고    scopus 로고
    • Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes
    • Willer CJ, Bonnycastle LL, Conneely KN, DurenWL, Jackson AU, et al. 2007. Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes 56:256-64
    • (2007) Diabetes , vol.56 , pp. 256-264
    • Willer, C.J.1    Bonnycastle, L.L.2    Conneely, K.N.3    Duren, W.L.4    Jackson, A.U.5
  • 97
    • 77955894071 scopus 로고    scopus 로고
    • Metal: Fast and efficient meta-Analysis of genomewide association scans
    • Willer CJ, Li Y, Abecasis GR. 2010. METAL: Fast and efficient meta-Analysis of genomewide association scans. Bioinformatics 26:2190-91
    • (2010) Bioinformatics , vol.26 , pp. 2190-2191
    • Willer, C.J.1    Li, Y.2    Abecasis, G.R.3
  • 98
    • 38649125868 scopus 로고    scopus 로고
    • Newly identified loci that influence lipid concentrations and risk of coronary artery disease
    • Willer CJ, Sanna S, Jackson AU, Scuteri A, Bonnycastle LL, et al. 2008. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat. Genet. 40:161-69
    • (2008) Nat. Genet , vol.40 , pp. 161-169
    • Willer, C.J.1    Sanna, S.2    Jackson, A.U.3    Scuteri, A.4    Bonnycastle, L.L.5
  • 99
    • 58149163142 scopus 로고    scopus 로고
    • Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
    • Willer CJ, Speliotes EK, Loos RJ, Li S, Lindgren CM, et al. 2009. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat. Genet. 41:25-34
    • (2009) Nat. Genet , vol.41 , pp. 25-34
    • Willer, C.J.1    Speliotes, E.K.2    Loos, R.J.3    Li, S.4    Lindgren, C.M.5
  • 100
    • 34948877698 scopus 로고    scopus 로고
    • Prediction of individual genetic risk to disease from genome-wide association studies
    • Wray NR, Goddard ME, Visscher PM. 2007. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 17:1520-28
    • (2007) Genome Res , vol.17 , pp. 1520-1528
    • Wray, N.R.1    Goddard, M.E.2    Visscher, P.M.3
  • 101
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J, Benyamin B, McEvoy BP, Gordon S, Henders AK, et al. 2010. Common SNPs explain a large proportion of the heritability for human height. Nat. Genet. 42:565-69
    • (2010) Nat. Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3    Gordon, S.4    Henders, A.K.5
  • 102
    • 84862832570 scopus 로고    scopus 로고
    • Conditional and jointmultiple-SNP analysis ofGWASsummary statistics identifies additional variants influencing complex traits
    • Genet. Investig. ANthropometr. Traits (GIANT) Consort et al.
    • Yang J, FerreiraT, Morris AP, Medland SE, Genet. Investig. ANthropometr. Traits (GIANT) Consort., et al. 2012. Conditional and jointmultiple-SNP analysis ofGWASsummary statistics identifies additional variants influencing complex traits. Nat. Genet. 44:369-75
    • (2012) Nat. Genet , vol.44 , pp. 369-375
    • Yang, J.1    Ferreira, T.2    Morris, A.P.3    Medland, S.E.4
  • 103
    • 77956243061 scopus 로고    scopus 로고
    • Imputation aware meta-Analysis of genome-wide association studies
    • Zaitlen N, Eskin E. 2010. Imputation aware meta-Analysis of genome-wide association studies. Genet. Epidemiol. 34:537-42
    • (2010) Genet. Epidemiol , vol.34 , pp. 537-542
    • Zaitlen, N.1    Eskin, E.2
  • 104
    • 84856405512 scopus 로고    scopus 로고
    • The mystery of missing heritability: Genetic interactions create phantom heritability
    • Zuk O, Hechter E, Sunyaev SR, Lander ES. 2012. The mystery of missing heritability: Genetic interactions create phantom heritability. Proc. Natl. Acad. Sci. USA 109:1193-98
    • (2012) Proc. Natl. Acad. Sci. USA , vol.109 , pp. 1193-1198
    • Zuk, O.1    Hechter, E.2    Sunyaev, S.R.3    Lander, E.S.4


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