메뉴 건너뛰기




Volumn 447, Issue 7145, 2007, Pages 661-678

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

(196)  Burton, Paul R a   Clayton, David G b   Cardon, Lon R c   Craddock, Nick d   Deloukas, Panos e   Duncanson, Audrey e   Kwiatkowski, Dominic P c,e   McCarthy, Mark I c,f   Ouwehand, Willem H g,h   Samani, Nilesh J i   Todd, John A b   Donnelly, Peter j   Barrett, Jeffrey C c   Davison, Dan j   Easton, Doug k   Evans, David c   Leung, Hin Tak b   Marchini, Jonathan L j   Morris, Andrew P c   Spencer, Chris C A j   more..


Author keywords

[No Author keywords available]

Indexed keywords

DISEASE CONTROL; GENE EXPRESSION; GENOME; GENOTYPE; PATHOLOGY; PHENOTYPE;

EID: 84969213492     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature05911     Document Type: Article
Times cited : (8193)

References (143)
  • 1
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn, J. N. & Daly, M. J. Genome-wide association studies for common diseases and complex traits. Nature Rev. Genet. 6, 95-108 (2005).
    • (2005) Nature Rev. Genet , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 2
    • 33745279056 scopus 로고    scopus 로고
    • Evaluating coverage of genome-wide association studies
    • Barrett, J. C. & Cardon, L. R. Evaluating coverage of genome-wide association studies. Nature Genet. 38, 659-662 (2006).
    • (2006) Nature Genet , vol.38 , pp. 659-662
    • Barrett, J.C.1    Cardon, L.R.2
  • 3
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • The International HapMap consortium
    • The International HapMap consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 4
    • 0029907597 scopus 로고    scopus 로고
    • Evidence-based health policy - lessons from the Global Burden of Disease Study
    • Murray, C. J. & Lopez, A. D. Evidence-based health policy - lessons from the Global Burden of Disease Study. Science 274, 740-743 (1996).
    • (1996) Science , vol.274 , pp. 740-743
    • Murray, C.J.1    Lopez, A.D.2
  • 5
    • 9844227496 scopus 로고
    • Chi-square tests with one degree of freedom: Extension of the Mantel-Haenszel procedure
    • Mantel, N. Chi-square tests with one degree of freedom: Extension of the Mantel-Haenszel procedure. J. Am. Stat. Ass. 58, 690-700 (1963).
    • (1963) J. Am. Stat. Ass , vol.58 , pp. 690-700
    • Mantel, N.1
  • 6
    • 0037426052 scopus 로고    scopus 로고
    • Problems of reporting genetic associations with complex outcomes
    • Colhoun, H. M., McKeigue, P. M. & Davey Smith, G. Problems of reporting genetic associations with complex outcomes. Lancet 361, 865-872 (2003).
    • (2003) Lancet , vol.361 , pp. 865-872
    • Colhoun, H.M.1    McKeigue, P.M.2    Davey Smith, G.3
  • 7
    • 2442677652 scopus 로고    scopus 로고
    • Genetic signatures of strong recent positive selection at the lactase gene
    • Bersaglieri, T. et al. Genetic signatures of strong recent positive selection at the lactase gene. Am. J. Hum. Genet. 74, 1111-1120 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , pp. 1111-1120
    • Bersaglieri, T.1
  • 8
    • 23944493133 scopus 로고    scopus 로고
    • Microsatellite variation and evolution of human lactase persistence
    • Coelho, M. et al. Microsatellite variation and evolution of human lactase persistence. Hum. Genet. 117, 329-339 (2005).
    • (2005) Hum. Genet , vol.117 , pp. 329-339
    • Coelho, M.1
  • 9
    • 33745121154 scopus 로고    scopus 로고
    • Positive natural selection in the human lineage
    • Sabeti, P. C. et al. Positive natural selection in the human lineage. Science 312, 1614-1620 (2006).
    • (2006) Science , vol.312 , pp. 1614-1620
    • Sabeti, P.C.1
  • 10
    • 34347341846 scopus 로고    scopus 로고
    • Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes, advance online publication, doi:10.1038/ng2068 6 June
    • Todd, J. A. et al. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nature Genet. advance online publication, doi:10.1038/ng2068 (6 June 2007).
    • (2007) Nature Genet
    • Todd, J.A.1
  • 11
    • 0041817568 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data: Linked loci and correlated allele frequencies
    • Falush, D., Stephens, M. & Pritchard, J. K. Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics 164, 1567-1587 (2003).
    • (2003) Genetics , vol.164 , pp. 1567-1587
    • Falush, D.1    Stephens, M.2    Pritchard, J.K.3
  • 12
    • 0034118493 scopus 로고    scopus 로고
    • Inference of population structure using multilocus genotype data
    • Pritchard, J. K., Stephens, M. & Donnelly, P. Inference of population structure using multilocus genotype data. Genetics 155, 945-959 (2000).
    • (2000) Genetics , vol.155 , pp. 945-959
    • Pritchard, J.K.1    Stephens, M.2    Donnelly, P.3
  • 13
    • 0018080152 scopus 로고
    • Synthetic maps of human gene frequencies in Europeans
    • Menozzi, P., Piazza, A. & Cavalli-Sforza, L. Synthetic maps of human gene frequencies in Europeans. Science 201, 786-792 (1978).
    • (1978) Science , vol.201 , pp. 786-792
    • Menozzi, P.1    Piazza, A.2    Cavalli-Sforza, L.3
  • 14
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price, A. L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nature Genet. 38, 904-909 (2006).
    • (2006) Nature Genet , vol.38 , pp. 904-909
    • Price, A.L.1
  • 15
    • 0032714352 scopus 로고    scopus 로고
    • Genomic control for association studies
    • Devlin, B. & Roeder, K. Genomic control for association studies. Biometrics 55, 997-1004 (1999).
    • (1999) Biometrics , vol.55 , pp. 997-1004
    • Devlin, B.1    Roeder, K.2
  • 16
    • 33644972261 scopus 로고    scopus 로고
    • eds Balding, D. J, Bishop, M. & Cannings, C, Wiley, New York
    • Clayton, D. in Handbook of Statistical Genetics (eds Balding, D. J., Bishop, M. & Cannings, C.) 939-960 (Wiley, New York, 2003).
    • (2003) Handbook of Statistical Genetics , pp. 939-960
    • Clayton, D.1
  • 17
    • 33750330814 scopus 로고    scopus 로고
    • Of flies and man: Drosophila as a model for human complex traits
    • Mackay, T. F. & Anholt, R. R. Of flies and man: Drosophila as a model for human complex traits. Annu. Rev. Genomics Hum. Genet. 7, 339-367 (2006).
    • (2006) Annu. Rev. Genomics Hum. Genet , vol.7 , pp. 339-367
    • Mackay, T.F.1    Anholt, R.R.2
  • 18
    • 1642295096 scopus 로고    scopus 로고
    • Assessing the probability that a positive report is false: An approach for molecular epidemiology studies
    • Wacholder, S., Chanock, S., Garcia-Closas, M., El Ghormli, L. & Rothman, N. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J. Natl. Cancer Inst. 96, 434-442 (2004).
    • (2004) J. Natl. Cancer Inst , vol.96 , pp. 434-442
    • Wacholder, S.1    Chanock, S.2    Garcia-Closas, M.3    El Ghormli, L.4    Rothman, N.5
  • 19
    • 34249895023 scopus 로고    scopus 로고
    • Zeggini, E. et al. Replication of genome-wide association signals in U.K. samples reveals risk loci for type 2 diabetes. Science online publication, doi:10.1126/science.1142364 (26 April 2007).
    • Zeggini, E. et al. Replication of genome-wide association signals in U.K. samples reveals risk loci for type 2 diabetes. Science online publication, doi:10.1126/science.1142364 (26 April 2007).
  • 20
    • 34249828965 scopus 로고    scopus 로고
    • A variant in CDKAL1 influences insulin response and risk of type 2 diabetes, advance online publication, doi:10.1038/ng2043 26 April
    • Steinthorsdottir, V. et al. A variant in CDKAL1 influences insulin response and risk of type 2 diabetes. Nature Genet. advance online publication, doi:10.1038/ng2043 (26 April 2007).
    • (2007) Nature Genet
    • Steinthorsdottir, V.1
  • 21
    • 34249885875 scopus 로고    scopus 로고
    • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    • online publication, doi:10.1126/science.1142382 26 April
    • Scott, L. J. et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science online publication, doi:10.1126/science.1142382 (26 April 2007).
    • (2007) Science
    • Scott, L.J.1
  • 22
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Diabetes Genetics Institute, online publication, doi:10.1126/science.1142358 26 April
    • Diabetes Genetics Institute. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science online publication, doi:10.1126/science.1142358 (26 April 2007).
    • (2007) Science
  • 23
    • 34347338690 scopus 로고    scopus 로고
    • Parkes, M. et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nature Genet. advance online publication, doi:10.1038/ng2061 (6 June 2007).
    • Parkes, M. et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nature Genet. advance online publication, doi:10.1038/ng2061 (6 June 2007).
  • 24
    • 34248594090 scopus 로고    scopus 로고
    • A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
    • 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).
    • (2007) Science , vol.316 , pp. 889-894
    • Frayling, T.M.1
  • 25
    • 3843056691 scopus 로고    scopus 로고
    • Multiple rare alleles contribute to low plasma levels of HDL cholesterol
    • Cohen, J. C. et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305, 869-872 (2004).
    • (2004) Science , vol.305 , pp. 869-872
    • Cohen, J.C.1
  • 27
    • 15044363048 scopus 로고    scopus 로고
    • The genetics of schizophrenia and bipolar disorder: Dissecting psychosis
    • Craddock, N., O'Donovan, M. C. & Owen, M. J. The genetics of schizophrenia and bipolar disorder: dissecting psychosis. J. Med. Genet. 42, 193-204 (2005).
    • (2005) J. Med. Genet , vol.42 , pp. 193-204
    • Craddock, N.1    O'Donovan, M.C.2    Owen, M.J.3
  • 28
    • 0037629099 scopus 로고    scopus 로고
    • The heritability of bipolar affective disorder and the genetic relationship to unipolar depression
    • McGuffin, P. et al. The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch. Gen. Psychiatry 60, 497-502 (2003).
    • (2003) Arch. Gen. Psychiatry , vol.60 , pp. 497-502
    • McGuffin, P.1
  • 29
    • 0023185858 scopus 로고
    • The familial transmission of bipolar illness
    • Rice, J. et al. The familial transmission of bipolar illness. Arch. Gen. Psychiatry 44, 441-447 (1987).
    • (1987) Arch. Gen. Psychiatry , vol.44 , pp. 441-447
    • Rice, J.1
  • 30
    • 25444466232 scopus 로고    scopus 로고
    • Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q
    • McQueen, M. B. et al. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am. J. Hum. Genet. 77, 582-595 (2005).
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 582-595
    • McQueen, M.B.1
  • 31
    • 18644386195 scopus 로고    scopus 로고
    • The beginning of the end for the Kraepelinian dichotomy
    • Craddock, N. & Owen, M. J. The beginning of the end for the Kraepelinian dichotomy. Br. J. Psychiatry 186, 364-366 (2005).
    • (2005) Br. J. Psychiatry , vol.186 , pp. 364-366
    • Craddock, N.1    Owen, M.J.2
  • 32
    • 0037422609 scopus 로고    scopus 로고
    • Disrupted-in-Schizophrenia-1 (DISC-1): Mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth
    • Ozeki, Y. et al. Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth. Proc. Natl Acad. Sci. USA 100, 289-294 (2003).
    • (2003) Proc. Natl Acad. Sci. USA , vol.100 , pp. 289-294
    • Ozeki, Y.1
  • 33
    • 0034927864 scopus 로고    scopus 로고
    • Schizophrenia and affective disorders - cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: Clinical and P300 findings in a family
    • Blackwood, D. H. et al. Schizophrenia and affective disorders - cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am. J. Hum. Genet. 69, 428-433 (2001).
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 428-433
    • Blackwood, D.H.1
  • 34
    • 13244291688 scopus 로고    scopus 로고
    • Neurological channelopathies
    • Graves, T. D. & Hanna, M. G. Neurological channelopathies. Postgrad. Med. J. 81, 20-32 (2005).
    • (2005) Postgrad. Med. J , vol.81 , pp. 20-32
    • Graves, T.D.1    Hanna, M.G.2
  • 35
    • 0036212738 scopus 로고    scopus 로고
    • Glutamate and GABA systems as targets for novel antidepressant and mood-stabilizing treatments
    • Krystal, J. H. et al. Glutamate and GABA systems as targets for novel antidepressant and mood-stabilizing treatments. Mol. Psychiatry 7 (Suppl. 1), S71-S80 (2002).
    • (2002) Mol. Psychiatry , vol.7 , Issue.SUPPL. 1
    • Krystal, J.H.1
  • 36
    • 0036024259 scopus 로고    scopus 로고
    • Reduction of synapsin in the hippocampus of patients with bipolar disorder and schizophrenia
    • Vawter, M. P. et al. Reduction of synapsin in the hippocampus of patients with bipolar disorder and schizophrenia. Mol. Psychiatry 7, 571-578 (2002).
    • (2002) Mol. Psychiatry , vol.7 , pp. 571-578
    • Vawter, M.P.1
  • 37
    • 21544467275 scopus 로고    scopus 로고
    • Pathophysiology of coronary artery disease
    • Libby, P. & Theroux, P. Pathophysiology of coronary artery disease. Circulation 111, 3481-3488 (2005).
    • (2005) Circulation , vol.111 , pp. 3481-3488
    • Libby, P.1    Theroux, P.2
  • 38
    • 4444382796 scopus 로고    scopus 로고
    • Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): Case-control study
    • Yusuf, S. et al. Effect of potentially modifiable risk factors associated with myocardial infarction in 52 countries (the INTERHEART study): case-control study. Lancet 364, 937-952 (2004).
    • (2004) Lancet , vol.364 , pp. 937-952
    • Yusuf, S.1
  • 40
    • 33644840046 scopus 로고    scopus 로고
    • Genetic susceptibility to coronary artery disease: From promise to progress
    • Watkins, H. & Farrall, M. Genetic susceptibility to coronary artery disease: from promise to progress. Nature Rev. Genet. 7, 163-173 (2006).
    • (2006) Nature Rev. Genet , vol.7 , pp. 163-173
    • Watkins, H.1    Farrall, M.2
  • 41
    • 10744220794 scopus 로고    scopus 로고
    • The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke
    • Helgadottir, A. et al. The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and stroke. Nature Genet. 36, 233-239 (2004).
    • (2004) Nature Genet , vol.36 , pp. 233-239
    • Helgadottir, A.1
  • 42
    • 29444444748 scopus 로고    scopus 로고
    • A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction
    • Helgadottir, A. et al. A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarction. Nature Genet. 38, 68-74 (2006).
    • (2006) Nature Genet , vol.38 , pp. 68-74
    • Helgadottir, A.1
  • 43
    • 33749018788 scopus 로고    scopus 로고
    • Genetic susceptibility to myocardial infarction and coronary artery disease
    • Topol, E. J., Smith, J., Plow, E. F. &Wang, Q. K. Genetic susceptibility to myocardial infarction and coronary artery disease. Hum. Mol. Genet. 15 (Spec. No. 2), R117-R123 (2006).
    • (2006) Hum. Mol. Genet , vol.15 , Issue.SPEC. 2
    • Topol, E.J.1    Smith, J.2    Plow, E.F.3    Wang, Q.K.4
  • 44
    • 0037309326 scopus 로고    scopus 로고
    • Tumor suppression by Ink4a-Arf: Progress and puzzles
    • Lowe, S. W. & Sherr, C. J. Tumor suppression by Ink4a-Arf: progress and puzzles. Curr. Opin. Genet. Dev. 13, 77-83 (2003).
    • (2003) Curr. Opin. Genet. Dev , vol.13 , pp. 77-83
    • Lowe, S.W.1    Sherr, C.J.2
  • 45
    • 0028168242 scopus 로고
    • INK4B is a potential effector of TGF-β-induced cell cycle arrest
    • INK4Bis a potential effector of TGF-β-induced cell cycle arrest. Nature 371, 257-261 (1994).
    • (1994) Nature , vol.371 , pp. 257-261
    • Hannon, G.J.1    Beach, D.2
  • 46
    • 3943049366 scopus 로고    scopus 로고
    • Smad expression in human atherosclerotic lesions: Evidence for impaired TGF-β/Smad signaling in smooth muscle cells of fibrofatty lesions
    • Kalinina, N. et al. Smad expression in human atherosclerotic lesions: evidence for impaired TGF-β/Smad signaling in smooth muscle cells of fibrofatty lesions. Arterioscler. Thromb. Vasc. Biol. 24, 1391-1396 (2004).
    • (2004) Arterioscler. Thromb. Vasc. Biol , vol.24 , pp. 1391-1396
    • Kalinina, N.1
  • 47
    • 0034706909 scopus 로고    scopus 로고
    • A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer
    • Schmid, M. et al. A methylthioadenosine phosphorylase (MTAP) fusion transcript identifies a new gene on chromosome 9p21 that is frequently deleted in cancer. Oncogene 19, 5747-5754 (2000).
    • (2000) Oncogene , vol.19 , pp. 5747-5754
    • Schmid, M.1
  • 48
    • 0242353316 scopus 로고    scopus 로고
    • 1-tetrahydrofolate synthase: Gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls
    • 1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls. J. Biol. Chem. 278, 43178-43187 (2003).
    • (2003) J. Biol. Chem , vol.278 , pp. 43178-43187
    • Prasannan, P.1    Pike, S.2    Peng, K.3    Shane, B.4    Appling, D.R.5
  • 50
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
    • Frosst, P. et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genet. 10, 111-113 (1995).
    • (1995) Nature Genet , vol.10 , pp. 111-113
    • Frosst, P.1
  • 51
    • 0037163849 scopus 로고    scopus 로고
    • MTHFR 677C→T polymorphism and risk of coronary heart disease: A meta-analysis
    • Klerk, M. et al. MTHFR 677C→T polymorphism and risk of coronary heart disease: a meta-analysis. J. Am. Med. Assoc. 288, 2023-2031 (2002).
    • (2002) J. Am. Med. Assoc , vol.288 , pp. 2023-2031
    • Klerk, M.1
  • 52
    • 0033646360 scopus 로고    scopus 로고
    • 3]serine allows in vivo kinetic measurement of serine turnover, homocysteine remethylation, and transsulfuration processes in human one-carbon metabolism
    • 3]serine allows in vivo kinetic measurement of serine turnover, homocysteine remethylation, and transsulfuration processes in human one-carbon metabolism. Am. J. Clin. Nutr. 72, 1535-1541 (2000).
    • (2000) Am. J. Clin. Nutr , vol.72 , pp. 1535-1541
    • Gregory III, J.F.1
  • 53
    • 0033913983 scopus 로고    scopus 로고
    • Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria
    • Randak, C. et al. Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria. J. Inherit. Metab. Dis. 23, 520-522 (2000).
    • (2000) J. Inherit. Metab. Dis , vol.23 , pp. 520-522
    • Randak, C.1
  • 54
    • 11144237724 scopus 로고    scopus 로고
    • The ADAMTS proteases, extracellular matrix, and vascular disease - Waking the sleeping giant(s)!
    • Wight, T. N. The ADAMTS proteases, extracellular matrix, and vascular disease - Waking the sleeping giant(s)! Arterioscler. Thromb. Vasc. Biol. 25, 12-14 (2005).
    • (2005) Arterioscler. Thromb. Vasc. Biol , vol.25 , pp. 12-14
    • Wight, T.N.1
  • 55
    • 19944429537 scopus 로고    scopus 로고
    • The role of ADAMTS-1 in atherosclerosis: Remodeling of carotid artery, immunohistochemistry, and proteolysis of versican
    • Jonsson-Rylander, A. et al. The role of ADAMTS-1 in atherosclerosis: Remodeling of carotid artery, immunohistochemistry, and proteolysis of versican. Arter. Thromb. Vas. Bio. 25, 180-185 (2004).
    • (2004) Arter. Thromb. Vas. Bio , vol.25 , pp. 180-185
    • Jonsson-Rylander, A.1
  • 56
    • 33144459948 scopus 로고    scopus 로고
    • European evidence based consensus on the diagnosis and management of Crohn's disease: Current management
    • Travis, S. P. et al. European evidence based consensus on the diagnosis and management of Crohn's disease: current management. Gut 55 (Suppl. 1), i16-i35 (2006).
    • (2006) Gut , vol.55 , Issue.SUPPL. 1
    • Travis, S.P.1
  • 57
    • 33745775434 scopus 로고    scopus 로고
    • Mechanisms of disease: Pathogenesis of Crohn's disease and ulcerative colitis
    • Sartor, R. B. Mechanisms of disease: pathogenesis of Crohn's disease and ulcerative colitis. Nature Clin. Pract. Gastroenterol. Hepatol. 3, 390-407 (2006).
    • (2006) Nature Clin. Pract. Gastroenterol. Hepatol , vol.3 , pp. 390-407
    • Sartor, R.B.1
  • 58
    • 0023713859 scopus 로고
    • Ulcerative-colitis and Crohns-disease in an unselected population of monozygotic and dizygotic twins - a study of heritability and the influence of smoking
    • Tysk, C., Lindberg, E., Jarnerot, G. & Floderusmyrhed, B. Ulcerative-colitis and Crohns-disease in an unselected population of monozygotic and dizygotic twins - a study of heritability and the influence of smoking. Gut 29, 990-996 (1988).
    • (1988) Gut , vol.29 , pp. 990-996
    • Tysk, C.1    Lindberg, E.2    Jarnerot, G.3    Floderusmyrhed, B.4
  • 59
    • 33646020997 scopus 로고    scopus 로고
    • New genes in inflammatory bowel disease: Lessons for complex diseases?
    • Gaya, D. R., Russell, R. K., Nimmo, E. R. & Satsangi, J. New genes in inflammatory bowel disease: lessons for complex diseases? Lancet 367, 1271-1284 (2006).
    • (2006) Lancet , vol.367 , pp. 1271-1284
    • Gaya, D.R.1    Russell, R.K.2    Nimmo, E.R.3    Satsangi, J.4
  • 60
    • 0035978651 scopus 로고    scopus 로고
    • Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    • Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
    • (2001) Nature , vol.411 , pp. 599-603
    • Hugot, J.P.1
  • 61
    • 0035978533 scopus 로고    scopus 로고
    • A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    • Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
    • (2001) Nature , vol.411 , pp. 603-606
    • Ogura, Y.1
  • 62
    • 0034785352 scopus 로고    scopus 로고
    • Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease
    • Rioux, J. D. et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nature Genet. 29, 223-228 (2001).
    • (2001) Nature Genet , vol.29 , pp. 223-228
    • Rioux, J.D.1
  • 63
    • 33845340501 scopus 로고    scopus 로고
    • A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
    • Duerr, R. H. et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 314, 1461-1463 (2006).
    • (2006) Science , vol.314 , pp. 1461-1463
    • Duerr, R.H.1
  • 64
    • 33846627302 scopus 로고    scopus 로고
    • A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
    • Hampe, J. et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nature Genet. 39, 207-211 (2007).
    • (2007) Nature Genet , vol.39 , pp. 207-211
    • Hampe, J.1
  • 65
    • 34247554965 scopus 로고    scopus 로고
    • Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
    • Rioux, J. D. et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nature Genet. 39, 596-604 (2007).
    • (2007) Nature Genet , vol.39 , pp. 596-604
    • Rioux, J.D.1
  • 66
    • 34247579326 scopus 로고    scopus 로고
    • Novel crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
    • Libioulle, C. et al. Novel crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet. 3, e58 (2007).
    • (2007) PLoS Genet , vol.3
    • Libioulle, C.1
  • 67
    • 33748506089 scopus 로고    scopus 로고
    • Human IRGM induces autophagy to eliminate intracellular mycobacteria
    • Singh, S. B., Davis, A. S., Taylor, G. A. & Deretic, V. Human IRGM induces autophagy to eliminate intracellular mycobacteria. Science 313, 1438-1441 (2006).
    • (2006) Science , vol.313 , pp. 1438-1441
    • Singh, S.B.1    Davis, A.S.2    Taylor, G.A.3    Deretic, V.4
  • 68
    • 0031298720 scopus 로고    scopus 로고
    • Biological aspects of macrophage-stimulating protein (MSP) and its receptor
    • discussion 192-197
    • Leonard, E. J. Biological aspects of macrophage-stimulating protein (MSP) and its receptor. Ciba Found Symp. 212, 183-191; discussion 192-197 (1997).
    • (1997) Ciba Found Symp , vol.212 , pp. 183-191
    • Leonard, E.J.1
  • 69
    • 0343570496 scopus 로고    scopus 로고
    • NKX2.3 is required for MAdCAM-1 expression and homing of lymphocytes in spleen and mucosa-associated lymphoid tissue
    • Pabst, O., Forster, R., Lipp, M., Engel, H. & Arnold, H. H. NKX2.3 is required for MAdCAM-1 expression and homing of lymphocytes in spleen and mucosa-associated lymphoid tissue. EMBO J. 19, 2015-2023 (2000).
    • (2000) EMBO J , vol.19 , pp. 2015-2023
    • Pabst, O.1    Forster, R.2    Lipp, M.3    Engel, H.4    Arnold, H.H.5
  • 70
    • 27944464550 scopus 로고    scopus 로고
    • Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease
    • Yamazaki, K. et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum. Mol. Genet. 14, 3499-3506 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , pp. 3499-3506
    • Yamazaki, K.1
  • 71
    • 0029915835 scopus 로고    scopus 로고
    • Human native soluble CD40L is a biologically active trimer, processed inside microsomes
    • Pietravalle, F. et al. Human native soluble CD40L is a biologically active trimer, processed inside microsomes. J. Biol. Chem. 271, 5965-5967 (1996).
    • (1996) J. Biol. Chem , vol.271 , pp. 5965-5967
    • Pietravalle, F.1
  • 72
    • 84957110126 scopus 로고    scopus 로고
    • Battegay, E. J, Lip, G. Y. H. &Badris, G. L, eds, Taylor Francis Group
    • Battegay, E. J., Lip, G. Y. H. &Badris, G. L. (eds) Hypertension; Principles and Practice (Taylor Francis Group, 2005).
    • (2005) Hypertension; Principles and Practice
  • 73
    • 0001188360 scopus 로고
    • Kobberling, J. & Tattersall, R, eds, Academic Press, London
    • Kobberling, J. & Tattersall, R. (eds) The Genetics of Diabetes Mellitus (Academic Press, London, 1982).
    • (1982) The Genetics of Diabetes Mellitus
  • 74
    • 12344264734 scopus 로고    scopus 로고
    • Genetics of hypertension: Lessons learnt from Mendelian and polygenic syndromes
    • Dominiczak, A. F. et al. Genetics of hypertension: Lessons learnt from Mendelian and polygenic syndromes. Clin. Exp. Hypertens. 26, 611-620 (2004).
    • (2004) Clin. Exp. Hypertens , vol.26 , pp. 611-620
    • Dominiczak, A.F.1
  • 76
    • 20144377218 scopus 로고    scopus 로고
    • Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease
    • Hubner, N. et al. Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease. Nature Genet. 37, 243-253 (2005).
    • (2005) Nature Genet , vol.37 , pp. 243-253
    • Hubner, N.1
  • 77
    • 0038375052 scopus 로고    scopus 로고
    • Genome-wide mapping of human loci for essential hypertension
    • Caulfield, M. et al. Genome-wide mapping of human loci for essential hypertension. Lancet 361, 2118-2123 (2003).
    • (2003) Lancet , vol.361 , pp. 2118-2123
    • Caulfield, M.1
  • 78
    • 26444443132 scopus 로고    scopus 로고
    • Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study
    • Newhouse, S. J. et al. Haplotypes of the WNK1 gene associate with blood pressure variation in a severely hypertensive population from the British Genetics of Hypertension study. Hum. Mol. Genet. 14, 1805-1814 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , pp. 1805-1814
    • Newhouse, S.J.1
  • 79
    • 33644874530 scopus 로고    scopus 로고
    • Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population
    • Tobin, M. D. et al. Association of WNK1 gene polymorphisms and haplotypes with ambulatory blood pressure in the general population. Circulation 112, 3423-3429 (2005).
    • (2005) Circulation , vol.112 , pp. 3423-3429
    • Tobin, M.D.1
  • 80
    • 0025171580 scopus 로고
    • 2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum
    • 2+release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J. Biol. Chem. 265, 13472-13483 (1990).
    • (1990) J. Biol. Chem , vol.265 , pp. 13472-13483
    • Otsu, K.1
  • 83
    • 0025845554 scopus 로고
    • Polygenic susceptibility in rheumatoid arthritis
    • Wordsworth, P. & Bell, J. Polygenic susceptibility in rheumatoid arthritis. Ann. Rheum. Dis. 50, 343-346 (1991).
    • (1991) Ann. Rheum. Dis , vol.50 , pp. 343-346
    • Wordsworth, P.1    Bell, J.2
  • 84
    • 0023500817 scopus 로고
    • The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis
    • Gregersen, P. K., Silver, J. & Winchester, R. J. The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 30, 1205-1213 (1987).
    • (1987) Arthritis Rheum , vol.30 , pp. 1205-1213
    • Gregersen, P.K.1    Silver, J.2    Winchester, R.J.3
  • 85
    • 0035069106 scopus 로고    scopus 로고
    • A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases
    • Jawaheer, D. et al. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am. J. Hum. Genet. 68, 927-936 (2001).
    • (2001) Am. J. Hum. Genet , vol.68 , pp. 927-936
    • Jawaheer, D.1
  • 86
    • 3042548992 scopus 로고    scopus 로고
    • Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites
    • John, S. et al. Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites. Am. J. Hum. Genet. 75, 54-64 (2004).
    • (2004) Am. J. Hum. Genet , vol.75 , pp. 54-64
    • John, S.1
  • 87
    • 0036188754 scopus 로고    scopus 로고
    • Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom
    • MacKay, K. et al. Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom. Arthritis Rheum. 46, 632-639 (2002).
    • (2002) Arthritis Rheum , vol.46 , pp. 632-639
    • MacKay, K.1
  • 88
    • 3242713277 scopus 로고    scopus 로고
    • A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis
    • Begovich, A. B. et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am. J. Hum. Genet. 75, 330-337 (2004).
    • (2004) Am. J. Hum. Genet , vol.75 , pp. 330-337
    • Begovich, A.B.1
  • 89
    • 34248184607 scopus 로고    scopus 로고
    • Investigation of genetic variation across PTPN22 in UK rheumatoid arthritis (RA) patients
    • Hinks, A., Eyre, S., Barton, A., Thomson, W. & Worthington, J. Investigation of genetic variation across PTPN22 in UK rheumatoid arthritis (RA) patients. Ann. Rheum. Dis. 66, 683-686 (2006).
    • (2006) Ann. Rheum. Dis , vol.66 , pp. 683-686
    • Hinks, A.1    Eyre, S.2    Barton, A.3    Thomson, W.4    Worthington, J.5
  • 90
    • 0030903027 scopus 로고    scopus 로고
    • Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor
    • Sharfe, N., Dadi, H. K., Shahar, M. & Roifman, C. M. Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor. Proc. Natl Acad. Sci. USA 94, 3168-3171 (1997).
    • (1997) Proc. Natl Acad. Sci. USA , vol.94 , pp. 3168-3171
    • Sharfe, N.1    Dadi, H.K.2    Shahar, M.3    Roifman, C.M.4
  • 91
    • 20244373351 scopus 로고    scopus 로고
    • Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms
    • Vella, A. et al. Localization of a type 1 diabetes locus in the IL2RA/CD25 region by use of tag single-nucleotide polymorphisms. Am. J. Hum. Genet. 76, 773-779 (2005).
    • (2005) Am. J. Hum. Genet , vol.76 , pp. 773-779
    • Vella, A.1
  • 92
    • 1642443489 scopus 로고    scopus 로고
    • Type 1 diabetes: Recent developments
    • Devendra, D., Liu, E. & Eisenbarth, G. S. Type 1 diabetes: recent developments. Br. Med. J. 328, 750-754 (2004).
    • (2004) Br. Med. J , vol.328 , pp. 750-754
    • Devendra, D.1    Liu, E.2    Eisenbarth, G.S.3
  • 93
    • 0345505676 scopus 로고    scopus 로고
    • Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: A nationwide follow-up study
    • Hyttinen, V., Kaprio, J., Kinnunen, L., Koskenvuo, M. & Tuomilehto, J. Genetic liability of type 1 diabetes and the onset age among 22,650 young Finnish twin pairs: a nationwide follow-up study. Diabetes 52, 1052-1055 (2003).
    • (2003) Diabetes , vol.52 , pp. 1052-1055
    • Hyttinen, V.1    Kaprio, J.2    Kinnunen, L.3    Koskenvuo, M.4    Tuomilehto, J.5
  • 94
    • 33745240931 scopus 로고    scopus 로고
    • A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region
    • Smyth, D. J. et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nature Genet. 38, 617-619 (2006).
    • (2006) Nature Genet , vol.38 , pp. 617-619
    • Smyth, D.J.1
  • 95
    • 33745592507 scopus 로고    scopus 로고
    • Statistical false positive or true disease pathway?
    • Todd, J. A. Statistical false positive or true disease pathway? Nature Genet. 38, 731-733 (2006).
    • (2006) Nature Genet , vol.38 , pp. 731-733
    • Todd, J.A.1
  • 96
    • 11244277091 scopus 로고    scopus 로고
    • Protein tyrosine phosphatases and the immune response
    • Mustelin, T., Vang, T. & Bottini, N. Protein tyrosine phosphatases and the immune response. Nature Rev. Immunol. 5, 43-57 (2005).
    • (2005) Nature Rev. Immunol , vol.5 , pp. 43-57
    • Mustelin, T.1    Vang, T.2    Bottini, N.3
  • 97
    • 12144291502 scopus 로고    scopus 로고
    • A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes
    • Bottini, N. et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nature Genet. 36, 337-338 (2004).
    • (2004) Nature Genet , vol.36 , pp. 337-338
    • Bottini, N.1
  • 98
    • 33947274768 scopus 로고    scopus 로고
    • Association of the interleukin-2 receptor alpha (IL-2Rα)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs
    • Brand, O. J. Association of the interleukin-2 receptor alpha (IL-2Rα)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs. Clin. Endocrinol. 66, 508-512 (2007).
    • (2007) Clin. Endocrinol , vol.66 , pp. 508-512
    • Brand, O.J.1
  • 99
    • 33847246293 scopus 로고    scopus 로고
    • Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity
    • Yamanouchi, J. et al. Interleukin-2 gene variation impairs regulatory T cell function and causes autoimmunity. Nature Genet. 39, 329-337 (2007).
    • (2007) Nature Genet , vol.39 , pp. 329-337
    • Yamanouchi, J.1
  • 100
    • 0035856920 scopus 로고    scopus 로고
    • Global and societal implications of the diabetes epidemic
    • Zimmet, P., Alberti, K. G. & Shaw, J. Global and societal implications of the diabetes epidemic. Nature 414, 782-787 (2001).
    • (2001) Nature , vol.414 , pp. 782-787
    • Zimmet, P.1    Alberti, K.G.2    Shaw, J.3
  • 101
    • 17044386953 scopus 로고    scopus 로고
    • Type 2 diabetes: Principles of pathogenesis and therapy
    • Stumvoll, M., Goldstein, B. J. & van Haeften, T. W. Type 2 diabetes: principles of pathogenesis and therapy. Lancet 365, 1333-1346 (2005).
    • (2005) Lancet , vol.365 , pp. 1333-1346
    • Stumvoll, M.1    Goldstein, B.J.2    van Haeften, T.W.3
  • 102
    • 0033624575 scopus 로고    scopus 로고
    • The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
    • Altshuler, D. et al. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes. Nature Genet. 26, 76-80 (2000).
    • (2000) Nature Genet , vol.26 , pp. 76-80
    • Altshuler, D.1
  • 103
    • 0037317981 scopus 로고    scopus 로고
    • Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes
    • Gloyn, A. L. et al. Large-scale association studies of variants in genes encoding the pancreatic β-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes 52, 568-572 (2003).
    • (2003) Diabetes , vol.52 , pp. 568-572
    • Gloyn, A.L.1
  • 104
    • 32544451924 scopus 로고    scopus 로고
    • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    • Grant, S. F. et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nature Genet. 38, 320-323 (2006).
    • (2006) Nature Genet , vol.38 , pp. 320-323
    • Grant, S.F.1
  • 105
    • 33845939675 scopus 로고    scopus 로고
    • TCF7L2: The biggest story in diabetes genetics since HLA?
    • Zeggini, E. & McCarthy, M. I. TCF7L2: the biggest story in diabetes genetics since HLA? Diabetologia 50, 1-4 (2007).
    • (2007) Diabetologia , vol.50 , pp. 1-4
    • Zeggini, E.1    McCarthy, M.I.2
  • 106
    • 33846596193 scopus 로고    scopus 로고
    • Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution
    • Helgason, A. et al. Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolution. Nature Genet. 39, 218-225 (2007).
    • (2007) Nature Genet , vol.39 , pp. 218-225
    • Helgason, A.1
  • 107
    • 33750892139 scopus 로고    scopus 로고
    • Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals
    • Saxena, R. et al. Common single nucleotide polymorphisms in TCF7L2 are reproducibly associated with type 2 diabetes and reduce the insulin response to glucose in nondiabetic individuals. Diabetes 55, 2890-2895 (2006).
    • (2006) Diabetes , vol.55 , pp. 2890-2895
    • Saxena, R.1
  • 108
    • 33749389928 scopus 로고    scopus 로고
    • Inhibition of cyclin-dependent kinase 5 activity protects pancreatic β cells from glucotoxicity
    • Ubeda, M., Rukstalis, J. M. & Habener, J. F. Inhibition of cyclin-dependent kinase 5 activity protects pancreatic β cells from glucotoxicity. J. Biol. Chem. 281, 28858-28864 (2006).
    • (2006) J. Biol. Chem , vol.281 , pp. 28858-28864
    • Ubeda, M.1    Rukstalis, J.M.2    Habener, J.F.3
  • 109
    • 33847176604 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel risk loci for type 2 diabetes
    • Sladek, R. et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature 445, 881-885 (2007).
    • (2007) Nature , vol.445 , pp. 881-885
    • Sladek, R.1
  • 110
    • 16844366786 scopus 로고    scopus 로고
    • Genome-wide strategies for detecting multiple loci that influence complex diseases
    • Marchini, J., Donnelly, P. & Cardon, L. R. Genome-wide strategies for detecting multiple loci that influence complex diseases. Nature Genet. 37, 413-417 (2005).
    • (2005) Nature Genet , vol.37 , pp. 413-417
    • Marchini, J.1    Donnelly, P.2    Cardon, L.R.3
  • 111
    • 27644546712 scopus 로고    scopus 로고
    • Population structure, differential bias and genomic control in a large-scale, case-control association study
    • Clayton, D. G. et al. Population structure, differential bias and genomic control in a large-scale, case-control association study. Nature Genet. 37, 1243-1246 (2005).
    • (2005) Nature Genet , vol.37 , pp. 1243-1246
    • Clayton, D.G.1
  • 112
    • 0742288585 scopus 로고    scopus 로고
    • The complex interplay among factors that influence allelic association
    • Zondervan, K. T. & Cardon, L. R. The complex interplay among factors that influence allelic association. Nature Rev. Genet. 5, 89-100 (2004).
    • (2004) Nature Rev. Genet , vol.5 , pp. 89-100
    • Zondervan, K.T.1    Cardon, L.R.2
  • 113
    • 0345742326 scopus 로고    scopus 로고
    • Population stratification in the candidate gene study: Fatal threat or red herring?
    • Hutchison, K. E., Stallings, M., McGeary, J. & Bryan, A. Population stratification in the candidate gene study: fatal threat or red herring? Psychol. Bull. 130, 66-79 (2004).
    • (2004) Psychol. Bull , vol.130 , pp. 66-79
    • Hutchison, K.E.1    Stallings, M.2    McGeary, J.3    Bryan, A.4
  • 114
    • 0037312921 scopus 로고    scopus 로고
    • Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease
    • Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S. & Hirschhorn, J. N. Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nature Genet. 33, 177-182 (2003).
    • (2003) Nature 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
  • 115
    • 0034957069 scopus 로고    scopus 로고
    • The distribution of the effects of genes affecting quantitative traits in livestock
    • Hayes, B. & Goddard, M. E. The distribution of the effects of genes affecting quantitative traits in livestock. Genet. Sel. Evol. 33, 209-229 (2001).
    • (2001) Genet. Sel. Evol , vol.33 , pp. 209-229
    • Hayes, B.1    Goddard, M.E.2
  • 116
    • 33746540478 scopus 로고    scopus 로고
    • Genome-wide genetic association of complex traits in heterogeneous stock mice
    • Valdar, W. et al. Genome-wide genetic association of complex traits in heterogeneous stock mice. Nature Genet. 38, 879-887 (2006).
    • (2006) Nature Genet , vol.38 , pp. 879-887
    • Valdar, W.1
  • 117
    • 27544432314 scopus 로고    scopus 로고
    • How many genes underlie the occurrence of common complex diseases in the population?
    • Yang, Q., Khoury, M. J., Friedman, J., Little, J. & Flanders, W. D. How many genes underlie the occurrence of common complex diseases in the population? Int. J. Epidemiol. 34, 1129-1137 (2005).
    • (2005) Int. J. Epidemiol , vol.34 , pp. 1129-1137
    • Yang, Q.1    Khoury, M.J.2    Friedman, J.3    Little, J.4    Flanders, W.D.5
  • 118
    • 33747881836 scopus 로고    scopus 로고
    • Predictive testing for complex diseases using multiple genes: Fact or fiction?
    • Janssens, A. C. et al. Predictive testing for complex diseases using multiple genes: fact or fiction? Genet. Med. 8, 395-400 (2006).
    • (2006) Genet. Med , vol.8 , pp. 395-400
    • Janssens, A.C.1
  • 119
    • 0018082913 scopus 로고
    • Research diagnostic criteria: Rationale and reliability
    • Spitzer, R. L., Endicott, J. & Robins, E. Research diagnostic criteria: rationale and reliability. Arch. Gen. Psychiatry 35, 773-782 (1978).
    • (1978) Arch. Gen. Psychiatry , vol.35 , pp. 773-782
    • Spitzer, R.L.1    Endicott, J.2    Robins, E.3
  • 120
    • 0025439099 scopus 로고
    • SCAN. Schedules for Clinical Assessment in Neuropsychiatry
    • Wing, J. K. B. T. et al. SCAN. Schedules for Clinical Assessment in Neuropsychiatry. Arch. Gen. Psychiatry 47, 589-593 (1990).
    • (1990) Arch. Gen. Psychiatry , vol.47 , pp. 589-593
    • Wing, J.K.B.T.1
  • 121
    • 0029762938 scopus 로고    scopus 로고
    • Concurrent validity of the OPCRIT diagnostic system. Comparison of OPCRIT diagnoses with consensus best-estimate lifetime diagnoses
    • Craddock, M. et al. Concurrent validity of the OPCRIT diagnostic system. Comparison of OPCRIT diagnoses with consensus best-estimate lifetime diagnoses. Br. J. Psychiatry 169, 58-63 (1996).
    • (1996) Br. J. Psychiatry , vol.169 , pp. 58-63
    • Craddock, M.1
  • 122
    • 0026410654 scopus 로고
    • A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of the OPCRIT system
    • McGuffin, P., Farmer, A. & Harvey, I. A polydiagnostic application of operational criteria in studies of psychotic illness. Development and reliability of the OPCRIT system. Arch. Gen. Psychiatry 48, 764-770 (1991).
    • (1991) Arch. Gen. Psychiatry , vol.48 , pp. 764-770
    • McGuffin, P.1    Farmer, A.2    Harvey, I.3
  • 123
    • 20344378225 scopus 로고    scopus 로고
    • Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder
    • Green, E. K. et al. Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Arch. Gen. Psychiatry 62, 642-648 (2005).
    • (2005) Arch. Gen. Psychiatry , vol.62 , pp. 642-648
    • Green, E.K.1
  • 124
    • 29644432625 scopus 로고    scopus 로고
    • Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: Case-control study of over 3000 individuals from the UK
    • Green, E. K. et al. Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. Br. J. Psychiatry 188, 21-25 (2006).
    • (2006) Br. J. Psychiatry , vol.188 , pp. 21-25
    • Green, E.K.1
  • 125
    • 28144451633 scopus 로고    scopus 로고
    • A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study
    • Samani, N. J. et al. A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study. Am. J. Hum. Genet. 77, 1011-1020 (2005).
    • (2005) Am. J. Hum. Genet , vol.77 , pp. 1011-1020
    • Samani, N.J.1
  • 126
    • 0024810567 scopus 로고
    • Classification of inflammatory bowel disease
    • discussion 6-9
    • Lennard-Jones, J. E. Classification of inflammatory bowel disease. Scand. J. Gastroenterol. (Suppl.) 170, 2-6; discussion 6-9 (1989).
    • (1989) Scand. J. Gastroenterol , vol.170 , Issue.SUPPL. , pp. 2-6
    • Lennard-Jones, J.E.1
  • 127
    • 0023945481 scopus 로고
    • The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis
    • Arnett, F. C. et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum. 31, 315-324 (1988).
    • (1988) Arthritis Rheum , vol.31 , pp. 315-324
    • Arnett, F.C.1
  • 128
    • 0027953822 scopus 로고
    • A comparison of the performance of different methods of disease classification for rheumatoid arthritis. Results of an analysis from a nationwide twin study
    • MacGregor, A. J., Bamber, S. & Silman, A. J. A comparison of the performance of different methods of disease classification for rheumatoid arthritis. Results of an analysis from a nationwide twin study. J. Rheumatol. 21, 1420-1426 (1994).
    • (1994) J. Rheumatol , vol.21 , pp. 1420-1426
    • MacGregor, A.J.1    Bamber, S.2    Silman, A.J.3
  • 129
    • 0027996052 scopus 로고
    • The Arthritis and Rheumatism Council's National Repository of Family Material: Pedigrees from the first 100 rheumatoid arthritis families containing affected sibling pairs
    • Worthington, J. et al. The Arthritis and Rheumatism Council's National Repository of Family Material: pedigrees from the first 100 rheumatoid arthritis families containing affected sibling pairs. Br. J. Rheumatol. 33, 970-976 (1994).
    • (1994) Br. J. Rheumatol , vol.33 , pp. 970-976
    • Worthington, J.1
  • 130
    • 0028024179 scopus 로고
    • The incidence of rheumatoid arthritis in the United Kingdom: Results from the Norfolk Arthritis Register
    • Symmons, D. P., Barrett, E. M., Bankhead, C. R., Scott, D. G. & Silman, A. J. The incidence of rheumatoid arthritis in the United Kingdom: results from the Norfolk Arthritis Register. Br. J. Rheumatol. 33, 735-739 (1994).
    • (1994) Br. J. Rheumatol , vol.33 , pp. 735-739
    • Symmons, D.P.1    Barrett, E.M.2    Bankhead, C.R.3    Scott, D.G.4    Silman, A.J.5
  • 131
    • 7044253358 scopus 로고    scopus 로고
    • Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus
    • Smyth, D. et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 53, 3020-3023 (2004).
    • (2004) Diabetes , vol.53 , pp. 3020-3023
    • Smyth, D.1
  • 132
    • 0034893106 scopus 로고    scopus 로고
    • A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): Analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q
    • Wiltshire, S. et al. A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am. J. Hum. Genet. 69, 553-569 (2001).
    • (2001) Am. J. Hum. Genet , vol.69 , pp. 553-569
    • Wiltshire, S.1
  • 133
    • 0033499355 scopus 로고    scopus 로고
    • Parent-offspring trios: A resource to facilitate the identification of type 2 diabetes genes
    • Frayling, T. M. et al. Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes. Diabetes 48, 2475-2479 (1999).
    • (1999) Diabetes , vol.48 , pp. 2475-2479
    • Frayling, T.M.1
  • 134
    • 33750602980 scopus 로고    scopus 로고
    • Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk
    • Groves, C. J. et al. Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk. Diabetes 55, 2640-2644 (2006).
    • (2006) Diabetes , vol.55 , pp. 2640-2644
    • Groves, C.J.1
  • 135
    • 32144461525 scopus 로고    scopus 로고
    • Cohort profile: 1958 British birth cohort (National Child Development Study)
    • Power, C. & Elliott, J. Cohort profile: 1958 British birth cohort (National Child Development Study). Int. J. Epidemiol. 35, 34-41 (2006).
    • (2006) Int. J. Epidemiol , vol.35 , pp. 34-41
    • Power, C.1    Elliott, J.2
  • 136
    • 34249991592 scopus 로고    scopus 로고
    • Lifecourse influences on health among British adults: Effects of region of residence in childhood and adulthood
    • Advance online publication, doi:10.1093/ije/dyl309 25 January
    • Strachan, D. P. et al. Lifecourse influences on health among British adults: Effects of region of residence in childhood and adulthood. Int. J. Epidemiol. Advance online publication, doi:10.1093/ije/dyl309 (25 January 2007).
    • (2007) Int. J. Epidemiol
    • Strachan, D.P.1
  • 137
    • 20844455582 scopus 로고    scopus 로고
    • Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. 1, 104-105
    • Matsuzaki, H. et al. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. 1, 104-105. Nat Methods 1, 104-105 (2004).
    • (2004) Nat Methods , vol.1 , pp. 104-105
    • Matsuzaki, H.1
  • 138
    • 20844440702 scopus 로고    scopus 로고
    • Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays
    • Di, X. et al. Dynamic model based algorithms for screening and genotyping over 100 K SNPs on oligonucleotide microarrays. Bioinformatics 21, 1958-1963 (2005).
    • (2005) Bioinformatics , vol.21 , pp. 1958-1963
    • Di, X.1
  • 139
    • 30344454706 scopus 로고    scopus 로고
    • A genotype calling algorithm for affymetrix SNP arrays
    • Rabbee, N. & Speed, T. A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics 22, 7-12 (2006).
    • (2006) Bioinformatics , vol.22 , pp. 7-12
    • Rabbee, N.1    Speed, T.2
  • 141
    • 34250028830 scopus 로고
    • Enhancements to Aid Interpretation of Probability Plots
    • Stirling, W. D. Enhancements to Aid Interpretation of Probability Plots. Statistician 31, 211-220 (1982).
    • (1982) Statistician , vol.31 , pp. 211-220
    • Stirling, W.D.1
  • 142
    • 0347361674 scopus 로고    scopus 로고
    • Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data
    • Li, N. & Stephens, M. Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics 165, 2213-2233 (2003).
    • (2003) Genetics , vol.165 , pp. 2213-2233
    • Li, N.1    Stephens, M.2
  • 143
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies via imputation of genotypes
    • doi:10.1038/ng2088 in the press
    • Marchini, J., Howie, B., Myers, S., McVean, G. & Donnelly, P. A new multipoint method for genome-wide association studies via imputation of genotypes. Nature Genet. doi:10.1038/ng2088 (in the press).
    • Nature Genet
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.