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Volumn 287, Issue 37, 2012, Pages 30932-30940

Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEX TRAITS; DISEASE SUSCEPTIBILITY; EPIGENETIC DATA; GENETIC LOCUS; GENETIC VARIANTS; GENOME-WIDE ASSOCIATION; PROTEIN CODING REGIONS;

EID: 84866120668     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.R112.352427     Document Type: Short Survey
Times cited : (38)

References (78)
  • 1
    • 34147122065 scopus 로고    scopus 로고
    • Mendelian Inheritance in Man and its online version, OMIM
    • McKusick, V. A. (2007) Mendelian Inheritance in Man and its online version, OMIM. Am. J. Hum. Genet. 80, 588-604
    • (2007) Am. J. Hum. Genet. , vol.80 , pp. 588-604
    • McKusick, V.A.1
  • 5
    • 0025107556 scopus 로고
    • A deletion of the human β-globin locus activation region causes a major alteration in chromatin structure and replication across the entire β-globin locus
    • Forrester, W. C., Epner, E., Driscoll, M. C., Enver, T., Brice, M., Papayannopoulou, T., and Groudine, M. (1990) A deletion of the human β-globin locus activation region causes a major alteration in chromatin structure and replication across the entire β-globin locus. Genes Dev. 4, 1637-1649
    • (1990) Genes Dev. , vol.4 , pp. 1637-1649
    • Forrester, W.C.1    Epner, E.2    Driscoll, M.C.3    Enver, T.4    Brice, M.5    Papayannopoulou, T.6    Groudine, M.7
  • 6
    • 0037373275 scopus 로고    scopus 로고
    • Discovering genotypes underlying human phenotypes: Past successes for Mendelian disease, future approaches for complex disease
    • Botstein, D., and Risch, N. (2003) Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat. Genet. 33, 228-237
    • (2003) Nat. Genet. , vol.33 , pp. 228-237
    • Botstein, D.1    Risch, N.2
  • 8
    • 0037146578 scopus 로고    scopus 로고
    • Finding genes that underlie complex traits
    • Glazier, A. M., Nadeau, J. H., and Aitman, T. J. (2002) Finding genes that underlie complex traits. Science 298, 2345-2349
    • (2002) Science , vol.298 , pp. 2345-2349
    • Glazier, A.M.1    Nadeau, J.H.2    Aitman, T.J.3
  • 9
    • 13144306071 scopus 로고    scopus 로고
    • Genome-wide association studies for common diseases and complex traits
    • Hirschhorn, J. N., and Daly, M. J. (2005) Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet. 6, 95-108
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 95-108
    • Hirschhorn, J.N.1    Daly, M.J.2
  • 10
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • International HapMap Consortium
    • International HapMap Consortium. (2005) A haplotype map of the human genome. Nature 437, 1299-1320
    • (2005) Nature , vol.437 , pp. 1299-1320
  • 11
    • 44349132708 scopus 로고    scopus 로고
    • Common and rare variants in multifactorial susceptibility to common diseases
    • Bodmer, W., and Bonilla, C. (2008) Common and rare variants in multifactorial susceptibility to common diseases. Nat. Genet. 40, 695-701
    • (2008) Nat. Genet. , vol.40 , pp. 695-701
    • Bodmer, W.1    Bonilla, C.2
  • 14
    • 62549085618 scopus 로고    scopus 로고
    • Human genetic variation and its contribution to complex traits
    • Frazer, K. A., Murray, S. S., Schork, N. J., and Topol, E. J. (2009) Human genetic variation and its contribution to complex traits. Nat. Rev. Genet. 10, 241-251
    • (2009) Nat. Rev. Genet. , vol.10 , pp. 241-251
    • Frazer, K.A.1    Murray, S.S.2    Schork, N.J.3    Topol, E.J.4
  • 15
    • 80051968181 scopus 로고    scopus 로고
    • Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
    • Cooper, G. M., and Shendure, J. (2011) Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nat. Rev. Genet. 12, 628-640
    • (2011) Nat. Rev. Genet. , vol.12 , pp. 628-640
    • Cooper, G.M.1    Shendure, J.2
  • 16
    • 0035230102 scopus 로고    scopus 로고
    • Quantitative trait loci in Drosophila
    • Mackay, T. F. (2001) Quantitative trait loci in Drosophila. Nat. Rev. Genet. 2, 11-20
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 11-20
    • Mackay, T.F.1
  • 17
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., and Cox, N. J. (2010) Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888
    • (2010) PLoS Genet. , vol.6
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5    Cox, N.J.6
  • 20
    • 1842584947 scopus 로고    scopus 로고
    • Applied bioinformatics for the identification of regulatory elements
    • Wasserman, W. W., and Sandelin, A. (2004) Applied bioinformatics for the identification of regulatory elements. Nat. Rev. Genet. 5, 276-287
    • (2004) Nat. Rev. Genet. , vol.5 , pp. 276-287
    • Wasserman, W.W.1    Sandelin, A.2
  • 21
    • 33845341455 scopus 로고    scopus 로고
    • Locating mammalian transcription factor-binding sites: A survey of computational and experimental techniques
    • Elnitski, L., Jin, V. X., Farnham, P. J., and Jones, S. J. (2006) Locating mammalian transcription factor-binding sites: a survey of computational and experimental techniques. Genome Res. 16, 1455-1464
    • (2006) Genome Res. , vol.16 , pp. 1455-1464
    • Elnitski, L.1    Jin, V.X.2    Farnham, P.J.3    Jones, S.J.4
  • 22
    • 85015069067 scopus 로고    scopus 로고
    • Controlling the double helix
    • Felsenfeld, G., and Groudine, M. (2003) Controlling the double helix. Nature 421, 448-453
    • (2003) Nature , vol.421 , pp. 448-453
    • Felsenfeld, G.1    Groudine, M.2
  • 24
    • 67650711140 scopus 로고    scopus 로고
    • Genome-wide views of chromatin structure
    • Rando, O. J., and Chang, H. Y. (2009) Genome-wide views of chromatin structure. Annu. Rev. Biochem. 78, 245-271
    • (2009) Annu. Rev. Biochem. , vol.78 , pp. 245-271
    • Rando, O.J.1    Chang, H.Y.2
  • 25
    • 34250305146 scopus 로고    scopus 로고
    • Identification and analysis of functional elements in 1% of the human genome by theENCODEPilot Project
    • ENCODE Project Consortium
    • ENCODE Project Consortium (2007) Identification and analysis of functional elements in 1% of the human genome by theENCODEPilot Project. Nature 447, 799-816
    • (2007) Nature , vol.447 , pp. 799-816
  • 26
    • 0017087425 scopus 로고
    • Structural gene sets active in embryos and adult tissues of the sea urchin
    • Galau, G. A., Klein, W. H., Davis, M. M., Wold, B. J., Britten, R. J., and Davidson, E. H. (1976) Structural gene sets active in embryos and adult tissues of the sea urchin. Cell 7, 487-505
    • (1976) Cell , vol.7 , pp. 487-505
    • Galau, G.A.1    Klein, W.H.2    Davis, M.M.3    Wold, B.J.4    Britten, R.J.5    Davidson, E.H.6
  • 27
    • 0019061278 scopus 로고
    • Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose
    • Thomas, P. S. (1980) Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose. Proc. Natl. Acad. Sci. U.S.A. 77, 5201-5205
    • (1980) Proc. Natl. Acad. Sci. U.S.A. , vol.77 , pp. 5201-5205
    • Thomas, P.S.1
  • 31
    • 0023899769 scopus 로고
    • Nuclease hypersensitive sites in chromatin
    • Gross, D. S., and Garrard, W. T. (1988) Nuclease hypersensitive sites in chromatin. Ann. Rev. Biochem. 57, 159-197
    • (1988) Ann. Rev. Biochem. , vol.57 , pp. 159-197
    • Gross, D.S.1    Garrard, W.T.2
  • 32
    • 33847076849 scopus 로고    scopus 로고
    • Chromatin modifications and their function
    • Kouzarides, T. (2007) Chromatin modifications and their function. Cell 128, 693-705
    • (2007) Cell , vol.128 , pp. 693-705
    • Kouzarides, T.1
  • 33
    • 39449088572 scopus 로고    scopus 로고
    • Genome-wide approaches to studying chromatin modifications
    • Schones, D. E., and Zhao, K. (2008) Genome-wide approaches to studying chromatin modifications. Nat. Rev. Genet. 9, 179-191
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 179-191
    • Schones, D.E.1    Zhao, K.2
  • 39
    • 0023645070 scopus 로고
    • Regulation of inducible and tissue-specific gene expression
    • Maniatis, T., Goodbourn, S., and Fischer, J. A. (1987) Regulation of inducible and tissue-specific gene expression. Science 236, 1237-1245
    • (1987) Science , vol.236 , pp. 1237-1245
    • Maniatis, T.1    Goodbourn, S.2    Fischer, J.A.3
  • 40
    • 0030949835 scopus 로고    scopus 로고
    • Myc versus USF: Discrimination at the cad gene is determined by core promoter elements
    • Boyd, K. E., and Farnham, P. J. (1997) Myc versus USF: discrimination at the cad gene is determined by core promoter elements. Mol. Cell. Biol. 17, 2529-2537
    • (1997) Mol. Cell. Biol. , vol.17 , pp. 2529-2537
    • Boyd, K.E.1    Farnham, P.J.2
  • 42
    • 79955550445 scopus 로고    scopus 로고
    • A user's guide to the Encyclopedia of DNA Elements (ENCODE)
    • ENCODE Project Consortium
    • ENCODE Project Consortium (2011) A user's guide to the Encyclopedia of DNA Elements (ENCODE). PLoS Biol. 9, e1001046
    • (2011) PLoS Biol. , vol.9
  • 43
    • 33847047461 scopus 로고    scopus 로고
    • Epigenetics: A landscape takes shape
    • Goldberg, A. D., Allis, C. D., and Bernstein, E. (2007) Epigenetics: a landscape takes shape. Cell 128, 635-638
    • (2007) Cell , vol.128 , pp. 635-638
    • Goldberg, A.D.1    Allis, C.D.2    Bernstein, E.3
  • 44
    • 8844265508 scopus 로고    scopus 로고
    • Epigenetic regulation of cellular memory by the Polycomb and Trithorax group proteins
    • Ringrose, L., and Paro, R. (2004) Epigenetic regulation of cellular memory by the Polycomb and Trithorax group proteins. Annu. Rev. Genet. 38, 413-443
    • (2004) Annu. Rev. Genet. , vol.38 , pp. 413-443
    • Ringrose, L.1    Paro, R.2
  • 45
    • 37749047490 scopus 로고    scopus 로고
    • Sequence census methods for functional genomics
    • Wold, B., and Myers, R. M. (2008) Sequence census methods for functional genomics. Nat. Methods 5, 19-21
    • (2008) Nat. Methods , vol.5 , pp. 19-21
    • Wold, B.1    Myers, R.M.2
  • 46
    • 84865790047 scopus 로고    scopus 로고
    • An integrated Encyclopedia ofDNA Elements in the Human Genome
    • ENCODEProject Consortium in press
    • ENCODEProject Consortium (2012) An integrated Encyclopedia ofDNA Elements in the Human Genome. Nature, in press
    • (2012) Nature
  • 48
    • 34047111213 scopus 로고    scopus 로고
    • Translational and rotational settings of H2A.Z nucleosomes across the Saccharomyces cerevisiae genome
    • Albert, I., Mavrich, T. N., Tomsho, L. P., Qi, J., Zanton, S. J., Schuster, S. C., and Pugh, B. F. (2007) Translational and rotational settings of H2A.Z nucleosomes across the Saccharomyces cerevisiae genome. Nature 446, 572-576
    • (2007) Nature , vol.446 , pp. 572-576
    • Albert, I.1    Mavrich, T.N.2    Tomsho, L.P.3    Qi, J.4    Zanton, S.J.5    Schuster, S.C.6    Pugh, B.F.7
  • 51
    • 7444260846 scopus 로고    scopus 로고
    • The ENCODE (ENCyclopedia of DNA Elements) Project
    • ENCODE Project Consortium
    • ENCODE Project Consortium (2004) The ENCODE (ENCyclopedia Of DNA Elements) Project. Science 306, 636-640
    • (2004) Science , vol.306 , pp. 636-640
  • 57
    • 84865777825 scopus 로고    scopus 로고
    • Linking disease associations with regulatory information in the human genome
    • in press
    • Schaub, M. A., Boyle, A. P., Kundaje, A., Batzaglou, S., and Snyder, M. (2012) Linking disease associations with regulatory information in the human genome. Genome Research, in press
    • (2012) Genome Research
    • Schaub, M.A.1    Boyle, A.P.2    Kundaje, A.3    Batzaglou, S.4    Snyder, M.5
  • 58
    • 0023550898 scopus 로고
    • Evidence for a locus-activating region: The formation of developmentally stable hypersensitive sites in globin-expressing hybrids
    • Forrester, W. C., Takegawa, S., Papayannopoulou, T., Stamatoyannopoulos, G., and Groudine, M. (1987) Evidence for a locus-activating region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res. 15, 10159-10177
    • (1987) Nucleic Acids Res. , vol.15 , pp. 10159-10177
    • Forrester, W.C.1    Takegawa, S.2    Papayannopoulou, T.3    Stamatoyannopoulos, G.4    Groudine, M.5
  • 59
    • 0023663887 scopus 로고
    • Position-independent, high-level expression of the human β-globin gene in transgenic mice
    • Grosveld, F., van Assendelft, G. B., Greaves, D. R., and Kollias, G. (1987) Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell 51, 975-985
    • (1987) Cell , vol.51 , pp. 975-985
    • Grosveld, F.1    Van Assendelft, G.B.2    Greaves, D.R.3    Kollias, G.4
  • 60
    • 0024993211 scopus 로고
    • A major positive regulatory region located far upstream of the human α-globin gene locus
    • Higgs, D. R., Wood, W. G., Jarman, A. P., Sharpe, J., Lida, J., Pretorius, I. M., and Ayyub, H. (1990) A major positive regulatory region located far upstream of the human α-globin gene locus. Genes Dev. 4, 1588-1601
    • (1990) Genes Dev. , vol.4 , pp. 1588-1601
    • Higgs, D.R.1    Wood, W.G.2    Jarman, A.P.3    Sharpe, J.4    Lida, J.5    Pretorius, I.M.6    Ayyub, H.7
  • 71
    • 0026691333 scopus 로고
    • GATA-binding transcription factors in hematopoietic cells
    • Orkin, S. H. (1992) GATA-binding transcription factors in hematopoietic cells. Blood 80, 575-581
    • (1992) Blood , vol.80 , pp. 575-581
    • Orkin, S.H.1
  • 72
    • 32444446240 scopus 로고    scopus 로고
    • Gene regulatory networks and the evolution of animal body plans
    • Davidson, E. H., and Erwin, D. H. (2006) Gene regulatory networks and the evolution of animal body plans. Science 311, 796-800
    • (2006) Science , vol.311 , pp. 796-800
    • Davidson, E.H.1    Erwin, D.H.2
  • 73
    • 83255164884 scopus 로고    scopus 로고
    • Comprehensive genome-wide protein-DNA interactions detected at single-nucleotide resolution
    • Rhee, H. S., and Pugh, B. F. (2011) Comprehensive genome-wide protein-DNA interactions detected at single-nucleotide resolution. Cell 147, 1408-1419
    • (2011) Cell , vol.147 , pp. 1408-1419
    • Rhee, H.S.1    Pugh, B.F.2
  • 76
    • 78650747491 scopus 로고    scopus 로고
    • Discovery and characterization of chromatin states for systematic annotation of the human genome
    • Ernst, J., and Kellis, M. (2010) Discovery and characterization of chromatin states for systematic annotation of the human genome. Nat. Biotechnol. 28, 817-825
    • (2010) Nat. Biotechnol. , vol.28 , pp. 817-825
    • Ernst, J.1    Kellis, M.2
  • 77
    • 84862785201 scopus 로고    scopus 로고
    • Unsupervised pattern discovery in human chromatin structure through genomic segmentation
    • Hoffman, M. M., Buske, O. J., Wang, J., Weng, Z., Bilmes, J. A., and Noble, W. S. (2012) Unsupervised pattern discovery in human chromatin structure through genomic segmentation. Nat. Methods 9, 473-476
    • (2012) Nat. Methods , vol.9 , pp. 473-476
    • Hoffman, M.M.1    Buske, O.J.2    Wang, J.3    Weng, Z.4    Bilmes, J.A.5    Noble, W.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.