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Volumn 26, Issue 10, 2010, Pages 438-442

Towards a complete resolution of the genetic architecture of disease

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DISEASE PREDISPOSITION; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; HUMAN; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; RISK FACTOR;

EID: 77956788631     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tig.2010.07.004     Document Type: Article
Times cited : (71)

References (47)
  • 1
    • 0024424270 scopus 로고
    • Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA
    • Riordan J.R., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989, 245:1066-1073.
    • (1989) Science , vol.245 , pp. 1066-1073
    • Riordan, J.R.1
  • 2
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: chromosome walking and jumping
    • Rommens J.M., et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1
  • 3
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace D.C., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1
  • 4
    • 0024423668 scopus 로고
    • Identification of the cystic fibrosis gene: genetic analysis
    • Kerem B., et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989, 245:1073-1080.
    • (1989) Science , vol.245 , pp. 1073-1080
    • Kerem, B.1
  • 5
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman E.P., et al. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51:919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1
  • 6
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M., et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987, 50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1
  • 7
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio T.A., et al. Finding the missing heritability of complex diseases. Nature 2009, 461:747-753.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1
  • 8
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A., et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991, 349:704-706.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1
  • 9
    • 0029101491 scopus 로고
    • Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
    • Rogaev E.I., et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 1995, 376:775-778.
    • (1995) Nature , vol.376 , pp. 775-778
    • Rogaev, E.I.1
  • 10
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R., et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995, 375:754-760.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1
  • 11
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 44:595-600.
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1
  • 12
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich A., et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004, 44:601-607.
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1
  • 13
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz J., et al. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 2004, 351:1972-1977.
    • (2004) N. Engl. J. Med. , vol.351 , pp. 1972-1977
    • Aharon-Peretz, J.1
  • 14
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • Sidransky E., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 2009, 361:1651-1661.
    • (2009) N. Engl. J. Med. , vol.361 , pp. 1651-1661
    • Sidransky, E.1
  • 15
    • 70549088602 scopus 로고    scopus 로고
    • Genome-wide association study reveals genetic risk underlying Parkinson's disease
    • Simon-Sanchez J., et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat. Genet. 2009, 41:1308-1312.
    • (2009) Nat. Genet. , vol.41 , pp. 1308-1312
    • Simon-Sanchez, J.1
  • 16
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D., et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat. Genet. 2009, 41:1088-1093.
    • (2009) Nat. Genet. , vol.41 , pp. 1088-1093
    • Harold, D.1
  • 17
    • 78549264026 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert J.C., et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet. 2009, 41:1094-1099.
    • (2009) Nat. Genet. , vol.41 , pp. 1094-1099
    • Lambert, J.C.1
  • 18
    • 70549084415 scopus 로고    scopus 로고
    • Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
    • Satake W., et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat. Genet. 2009, 41:1303-1307.
    • (2009) Nat. Genet. , vol.41 , pp. 1303-1307
    • Satake, W.1
  • 19
    • 67349211438 scopus 로고    scopus 로고
    • Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
    • Gu Y., et al. Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease. Nature 2009, 458:1039-1042.
    • (2009) Nature , vol.458 , pp. 1039-1042
    • Gu, Y.1
  • 20
    • 0035929273 scopus 로고    scopus 로고
    • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
    • Katsanis N., et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001, 293:2256-2259.
    • (2001) Science , vol.293 , pp. 2256-2259
    • Katsanis, N.1
  • 21
    • 77956759560 scopus 로고    scopus 로고
    • Mutation nomenclature. Curr. Protoc. Hum. Genet. UNIT 7.13
    • den Dunnen, J.T. and Antonarakis, S.E. (2003) Mutation nomenclature. Curr. Protoc. Hum. Genet. UNIT 7.13.
    • (2003)
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 22
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • Lander E.S., et al. Initial sequencing and analysis of the human genome. Nature 2001, 409:860-921.
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1
  • 23
    • 0035895505 scopus 로고    scopus 로고
    • The sequence of the human genome
    • Venter J.C., et al. The sequence of the human genome. Science 2001, 291:1304-1351.
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1
  • 24
    • 70249111091 scopus 로고    scopus 로고
    • Targeted capture and massively parallel sequencing of 12 human exomes
    • Ng S.B., et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009, 461:272-276.
    • (2009) Nature , vol.461 , pp. 272-276
    • Ng, S.B.1
  • 25
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a mendelian disorder
    • Ng S.B., et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 2010, 42:30-35.
    • (2010) Nat. Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1
  • 26
    • 34347337686 scopus 로고    scopus 로고
    • Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    • van de Leemput J., et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007, 3:e108.
    • (2007) PLoS Genet. , vol.3
    • van de Leemput, J.1
  • 27
    • 33750467600 scopus 로고    scopus 로고
    • Application of genome-wide single nucleotide polymorphism typing: simple association and beyond
    • Gibbs J.R., Singleton A. Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet. 2006, 2:e150.
    • (2006) PLoS Genet. , vol.2
    • Gibbs, J.R.1    Singleton, A.2
  • 28
    • 57149108745 scopus 로고    scopus 로고
    • A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
    • Knight M.A., et al. A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20. Hum. Mol. Genet. 2008, 17:3847-3853.
    • (2008) Hum. Mol. Genet. , vol.17 , pp. 3847-3853
    • Knight, M.A.1
  • 29
    • 39149087968 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
    • Camargos S., et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008, 7:207-215.
    • (2008) Lancet Neurol. , vol.7 , pp. 207-215
    • Camargos, S.1
  • 30
    • 65949104586 scopus 로고    scopus 로고
    • Genomewide association studies and human disease
    • Hardy J., Singleton A. Genomewide association studies and human disease. N. Engl. J. Med. 2009, 360:1759-1768.
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 31
    • 67249117049 scopus 로고    scopus 로고
    • Potential etiologic and functional implications of genome-wide association loci for human diseases and traits
    • Hindorff L.A., et al. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:9362-9367.
    • (2009) Proc. Natl. Acad. Sci. U. S. A. , vol.106 , pp. 9362-9367
    • Hindorff, L.A.1
  • 32
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: theoretical and practical concerns
    • Wang W.Y., et al. Genome-wide association studies: theoretical and practical concerns. Nat. Rev. Genet. 2005, 6:109-118.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 109-118
    • Wang, W.Y.1
  • 33
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy M.I., et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat. Rev. Genet. 2008, 9:356-369.
    • (2008) Nat. Rev. Genet. , vol.9 , pp. 356-369
    • McCarthy, M.I.1
  • 34
    • 34547618083 scopus 로고    scopus 로고
    • Drinking from the fire hose - statistical issues in genomewide association studies
    • Hunter D.J., Kraft P. Drinking from the fire hose - statistical issues in genomewide association studies. N. Engl. J. Med. 2007, 357:436-439.
    • (2007) N. Engl. J. Med. , vol.357 , pp. 436-439
    • Hunter, D.J.1    Kraft, P.2
  • 35
    • 33745599867 scopus 로고    scopus 로고
    • Commentary: heritability estimates - long past their sell-by date
    • Rose S.P. Commentary: heritability estimates - long past their sell-by date. Int. J. Epidemiol. 2006, 35:525-527.
    • (2006) Int. J. Epidemiol. , vol.35 , pp. 525-527
    • Rose, S.P.1
  • 36
    • 33645775067 scopus 로고    scopus 로고
    • An utter refutation of the 'fundamental theorem of the HapMap'
    • Terwilliger J.D., Hiekkalinna T. An utter refutation of the 'fundamental theorem of the HapMap'. Eur. J. Hum. Genet. 2006, 14:426-437.
    • (2006) Eur. J. Hum. Genet. , vol.14 , pp. 426-437
    • Terwilliger, J.D.1    Hiekkalinna, T.2
  • 37
    • 68449086236 scopus 로고    scopus 로고
    • International Schizophrenia Consortium (2009) Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature
    • International Schizophrenia Consortium (2009) Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 460, 748-752.
    • , vol.460 , pp. 748-752
  • 38
    • 0027194791 scopus 로고
    • Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families
    • Corder E.H., et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993, 261:921-923.
    • (1993) Science , vol.261 , pp. 921-923
    • Corder, E.H.1
  • 39
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein R.J., et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005, 308:385-389.
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1
  • 40
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines J.L., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005, 308:419-421.
    • (2005) Science , vol.308 , pp. 419-421
    • Haines, J.L.1
  • 41
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards A.O., et al. Complement factor H polymorphism and age-related macular degeneration. Science 2005, 308:421-424.
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1
  • 42
    • 33748325757 scopus 로고    scopus 로고
    • CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration
    • Li M., et al. CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat. Genet. 2006, 38:1049-1054.
    • (2006) Nat. Genet. , vol.38 , pp. 1049-1054
    • Li, M.1
  • 43
    • 39049163023 scopus 로고    scopus 로고
    • Association between microdeletion and microduplication at 16p11.2 and autism
    • Weiss L.A., et al. Association between microdeletion and microduplication at 16p11.2 and autism. N. Engl. J. Med. 2008, 358:667-675.
    • (2008) N. Engl. J. Med. , vol.358 , pp. 667-675
    • Weiss, L.A.1
  • 44
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett J.C., et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat. Genet. 2008, 40:955-962.
    • (2008) Nat. Genet. , vol.40 , pp. 955-962
    • Barrett, J.C.1
  • 45
    • 68949107976 scopus 로고    scopus 로고
    • The era of genomic epidemiology
    • Traynor B.J. The era of genomic epidemiology. Neuroepidemiology 2009, 33:276-279.
    • (2009) Neuroepidemiology , vol.33 , pp. 276-279
    • Traynor, B.J.1
  • 46
    • 0029805706 scopus 로고    scopus 로고
    • The new genomics: global views of biology
    • Lander E.S. The new genomics: global views of biology. Science 1996, 274:536-539.
    • (1996) Science , vol.274 , pp. 536-539
    • Lander, E.S.1
  • 47
    • 0042123967 scopus 로고    scopus 로고
    • Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy
    • de Silva R., et al. Strong association of the Saitohin gene Q7 variant with progressive supranuclear palsy. Neurology 2003, 61:407-409.
    • (2003) Neurology , vol.61 , pp. 407-409
    • de Silva, R.1


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