메뉴 건너뛰기




Volumn 65, Issue 3, 2008, Pages 319-321

The HapMap: Charting a course for genetic discovery in neurological diseases

Author keywords

[No Author keywords available]

Indexed keywords

ALZHEIMER DISEASE; AMYOTROPHIC LATERAL SCLEROSIS; CEREBROVASCULAR ACCIDENT; DNA SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HAPLOTYPE MAP; HUMAN; MOLECULAR CLONING; MUTATIONAL ANALYSIS; PARKINSON DISEASE; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 40849095902     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.65.3.319     Document Type: Review
Times cited : (24)

References (28)
  • 1
    • 0035895505 scopus 로고    scopus 로고
    • Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome [published correction appears in Science. 2001;292(5523):1838]. Science. 2001;291(5507):1304-1351.
    • Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome [published correction appears in Science. 2001;292(5523):1838]. Science. 2001;291(5507):1304-1351.
  • 2
    • 2042437650 scopus 로고    scopus 로고
    • Lander ES, Linton LM, Birren B, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome [published corrections appear in Nature. 2001;412(6846):565 and Nature. 2001;411(6838):720]. Nature. 2001;409(6822):860-922.
    • Lander ES, Linton LM, Birren B, et al; International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome [published corrections appear in Nature. 2001;412(6846):565 and Nature. 2001;411(6838):720]. Nature. 2001;409(6822):860-922.
  • 3
    • 79959524146 scopus 로고    scopus 로고
    • A haplotype map of the human genome
    • International HapMap Consortium
    • International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437(7063):1299-1320.
    • (2005) Nature , vol.437 , Issue.7063 , pp. 1299-1320
  • 4
    • 34547618083 scopus 로고    scopus 로고
    • Drinking from the fire hose: Statistical issues in genomewide association studies
    • Hunter DJ, Kraft P. Drinking from the fire hose: statistical issues in genomewide association studies. N Engl J Med. 2007;357(5):436-439.
    • (2007) N Engl J Med , vol.357 , Issue.5 , pp. 436-439
    • Hunter, D.J.1    Kraft, P.2
  • 5
    • 32544451924 scopus 로고    scopus 로고
    • Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes
    • Grant SF, Thorleifsson G, Reynisdottir I, et al. Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetes. Nat Genet. 2006;38(3):320-323.
    • (2006) Nat Genet , vol.38 , Issue.3 , pp. 320-323
    • Grant, S.F.1    Thorleifsson, G.2    Reynisdottir, I.3
  • 6
    • 33847176604 scopus 로고    scopus 로고
    • A genome-wide association study identifies novel risk loci for type 2 diabetes
    • Sladek R, Rocheleau G, Rung J, et al. A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature. 2007;445(7130):881-885.
    • (2007) Nature , vol.445 , Issue.7130 , pp. 881-885
    • Sladek, R.1    Rocheleau, G.2    Rung, J.3
  • 7
    • 34249888775 scopus 로고    scopus 로고
    • Diabetes Genetics Initiative of Broad Institute of Harvard and MIT; Lund University; Novartis Institutes of BioMedical Research. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
    • Saxena R, Voight BF, Lyssenko V, et al; Diabetes Genetics Initiative of Broad Institute of Harvard and MIT; Lund University; Novartis Institutes of BioMedical Research. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007;316(5829):1331-1336.
    • (2007) Science , vol.316 , Issue.5829 , pp. 1331-1336
    • Saxena, R.1    Voight, B.F.2    Lyssenko, V.3
  • 8
    • 34249895023 scopus 로고    scopus 로고
    • Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    • Zeggini E, Weedon MN, Lindgren CM, et al. Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science. 2007;316(5829):1336-1341.
    • (2007) Science , vol.316 , Issue.5829 , pp. 1336-1341
    • Zeggini, E.1    Weedon, M.N.2    Lindgren, C.M.3
  • 9
    • 34249885875 scopus 로고    scopus 로고
    • A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
    • Scott LJ, Mohlke KL, Bonnycastle LL, et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007;316(5829):1341-1345.
    • (2007) Science , vol.316 , Issue.5829 , pp. 1341-1345
    • Scott, L.J.1    Mohlke, K.L.2    Bonnycastle, L.L.3
  • 10
    • 0031595923 scopus 로고    scopus 로고
    • A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity
    • Deeb SS, Fajas L, Nemoto M, et al. A Pro12Ala substitution in PPARgamma2 associated with decreased receptor activity, lower body mass index and improved insulin sensitivity. Nat Genet. 1998;20(3):284-287.
    • (1998) Nat Genet , vol.20 , Issue.3 , pp. 284-287
    • Deeb, S.S.1    Fajas, L.2    Nemoto, M.3
  • 11
    • 0029995670 scopus 로고    scopus 로고
    • Thiazolidinediones in the treatment of insulin resistance and type II diabetes
    • Saltiel AR, Olefsky JM. Thiazolidinediones in the treatment of insulin resistance and type II diabetes. Diabetes. 1996;45(12):1661-1669.
    • (1996) Diabetes , vol.45 , Issue.12 , pp. 1661-1669
    • Saltiel, A.R.1    Olefsky, J.M.2
  • 12
    • 36048954488 scopus 로고    scopus 로고
    • Zinc supplementation for the prevention of type 2 diabetes mellitus
    • CD005525
    • Beletate V, El Dib RP, Atallah AN. Zinc supplementation for the prevention of type 2 diabetes mellitus. Cochrane Database Syst Rev. 2007;(1):CD005525.
    • Cochrane Database Syst Rev , vol.2007 , Issue.1
    • Beletate, V.1    El Dib, R.P.2    Atallah, A.N.3
  • 13
    • 34047272692 scopus 로고    scopus 로고
    • Coon KD, Myers AJ, Craig DW, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry. 2007;68(4):613-618.
    • Coon KD, Myers AJ, Craig DW, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry. 2007;68(4):613-618.
  • 14
    • 34147181052 scopus 로고    scopus 로고
    • Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500 288 single-nucleotide polymorphisms
    • Melquist S, Craig DW, Huentelman MJ, et al. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500 288 single-nucleotide polymorphisms. Am J Hum Genet. 2007;80(4):769-778.
    • (2007) Am J Hum Genet , vol.80 , Issue.4 , pp. 769-778
    • Melquist, S.1    Craig, D.W.2    Huentelman, M.J.3
  • 15
    • 34249745769 scopus 로고    scopus 로고
    • GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
    • Reiman EM, Webster JA, Myers AJ, et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron. 2007;54(5):713-720.
    • (2007) Neuron , vol.54 , Issue.5 , pp. 713-720
    • Reiman, E.M.1    Webster, J.A.2    Myers, A.J.3
  • 16
    • 34548083742 scopus 로고    scopus 로고
    • Whole-genome analysis of sporadic amyotrophic lateral sclerosis [published online ahead of print August 1, 2007]
    • Dunckley T, Huentelman MJ, Craig DW, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis [published online ahead of print August 1, 2007]. N Engl J Med. 2007;357(8):775-788.
    • (2007) N Engl J Med , vol.357 , Issue.8 , pp. 775-788
    • Dunckley, T.1    Huentelman, M.J.2    Craig, D.W.3
  • 17
    • 33847622526 scopus 로고    scopus 로고
    • Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: First stage analysis and public release of data
    • Schymick JC, Scholz SW, Fung HC, et al. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007;6(4):322-328.
    • (2007) Lancet Neurol , vol.6 , Issue.4 , pp. 322-328
    • Schymick, J.C.1    Scholz, S.W.2    Fung, H.C.3
  • 18
    • 33749667345 scopus 로고    scopus 로고
    • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: First stage analysis and public release of data
    • Fung HC, Scholz S, Matarin M, et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2006;5(11):911-916.
    • (2006) Lancet Neurol , vol.5 , Issue.11 , pp. 911-916
    • Fung, H.C.1    Scholz, S.2    Matarin, M.3
  • 19
    • 34047274599 scopus 로고    scopus 로고
    • A genome-wide genotyping study in patients with ischaemic stroke: Initial analysis and data release
    • Matarín M, Brown WM, Scholz S, et al. A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007;6(5):414-420.
    • (2007) Lancet Neurol , vol.6 , Issue.5 , pp. 414-420
    • Matarín, M.1    Brown, W.M.2    Scholz, S.3
  • 20
    • 33846531959 scopus 로고    scopus 로고
    • Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
    • Simon-Sanchez J, Scholz S, Fung HC, et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007;16(1):1-14.
    • (2007) Hum Mol Genet , vol.16 , Issue.1 , pp. 1-14
    • Simon-Sanchez, J.1    Scholz, S.2    Fung, H.C.3
  • 21
    • 40849107398 scopus 로고    scopus 로고
    • Simon-Sanchez J, Scholz S, Del Mar Matarin M, et al. Genomewide SNP assay reveals mutations underlying Parkinson disease [published online ahead of print November 9, 2007]. Hum Mutat. 2007;(2).
    • Simon-Sanchez J, Scholz S, Del Mar Matarin M, et al. Genomewide SNP assay reveals mutations underlying Parkinson disease [published online ahead of print November 9, 2007]. Hum Mutat. 2007;(2).
  • 22
    • 85099526095 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress response protein prkra
    • In press
    • Camargos S, Scholz S, Simon-Sanchez J, et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress response protein prkra. Lancet Neurol. In press.
    • Lancet Neurol
    • Camargos, S.1    Scholz, S.2    Simon-Sanchez, J.3
  • 23
    • 29444457877 scopus 로고    scopus 로고
    • International HapMap Consortium. Common deletion polymorphisms in the human genome
    • McCarroll SA, Hadnott TN, Perry GH, et al; International HapMap Consortium. Common deletion polymorphisms in the human genome. Nat Genet. 2006;38(1):86-92.
    • (2006) Nat Genet , vol.38 , Issue.1 , pp. 86-92
    • McCarroll, S.A.1    Hadnott, T.N.2    Perry, G.H.3
  • 24
    • 34347337686 scopus 로고    scopus 로고
    • Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    • doi:10.1371/journal.pgen.0030108
    • van de Leemput J, Chandran J, Knight MA, et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007;3(6):e108. doi:10.1371/journal.pgen.0030108.
    • (2007) PLoS Genet , vol.3 , Issue.6
    • van de Leemput, J.1    Chandran, J.2    Knight, M.A.3
  • 25
    • 33947220222 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • Lupski JR. Structural variation in the human genome. N Engl J Med. 2007;356(11):1169-1171.
    • (2007) N Engl J Med , vol.356 , Issue.11 , pp. 1169-1171
    • Lupski, J.R.1
  • 26
    • 33847178181 scopus 로고    scopus 로고
    • The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts
    • Myers AJ, Pittman AM, Zhao AS, et al. The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts. Neurobiol Dis. 2007;25(3):561-570.
    • (2007) Neurobiol Dis , vol.25 , Issue.3 , pp. 561-570
    • Myers, A.J.1    Pittman, A.M.2    Zhao, A.S.3
  • 28
    • 34249949113 scopus 로고    scopus 로고
    • Kauwe JS, Jacquart S, Chakraverty S, et al. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol. 2007;61(5):446-453.
    • Kauwe JS, Jacquart S, Chakraverty S, et al. Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol. 2007;61(5):446-453.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.