메뉴 건너뛰기




Volumn 11, Issue 3, 2011, Pages 246-253

Alzheimer's genetics in the GWAS era: A continuing story of 'replications and refutations'

Author keywords

Alzheimer's disease; Causal genes; Complex genetics; Genome wide association study; Meta analysis; Risk genes; Susceptibility factors

Indexed keywords

ALLELE; ALZHEIMER DISEASE; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN E4 GENE; APP GENE; BRIDGING INTEGRATOR 1 GENE; CD33 GENE; CLUSTERIN GENE; COMPLEMENT COMPONENT RECEPTOR 1 GENE; DISEASE ASSOCIATION; DNA SEQUENCE; GENE; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC RISK; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; GENETIC VARIABILITY; GRB2 ASSOCIATED BINDING PROTEIN 2 GENE; HUMAN; LINKAGE ANALYSIS; MEDICAL RESEARCH; MOLECULAR CLONING; NERVE DEGENERATION; ONSET AGE; PHOPHATIDYLINOSITOL BINDING CLATHRIN ASSEMBLY PROTEIN GENE; PSEN1 GENE; PSEN2 GENE; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; HUMAN GENOME; MUTATION; NUCLEOTIDE SEQUENCE;

EID: 79961164438     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-011-0193-z     Document Type: Review
Times cited : (34)

References (49)
  • 1
    • 0035468798 scopus 로고    scopus 로고
    • Of replications and refutations: The status of Alzheimer's disease genetic research
    • Bertram L, Tanzi RE. Of replications and refutations: the status of Alzheimer's disease genetic research. Curr Neurol Neurosci Rep. 2001;1:442-50.
    • (2001) Curr Neurol Neurosci Rep , vol.1 , pp. 442-450
    • Bertram, L.1    Tanzi, R.E.2
  • 2
    • 33845892752 scopus 로고    scopus 로고
    • Systematic meta-analyses of Alzheimer disease genetic association studies: The AlzGene database
    • DOI 10.1038/ng1934, PII NG1934
    • Bertram L, McQueen MB, Mullin K, et al. Systematic metaanalyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17-23. (Pubitemid 46026496)
    • (2007) Nature Genetics , vol.39 , Issue.1 , pp. 17-23
    • Bertram, L.1    McQueen, M.B.2    Mullin, K.3    Blacker, D.4    Tanzi, R.E.5
  • 4
    • 52449089987 scopus 로고    scopus 로고
    • Thirty years of Alzheimer's disease genetics: The implications of systematic meta-analyses
    • Bertram L, Tanzi RE. Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. Nat Rev Neurosci. 2008;9:768-78.
    • (2008) Nat Rev Neurosci , vol.9 , pp. 768-778
    • Bertram, L.1    Tanzi, R.E.2
  • 5
    • 2042437650 scopus 로고    scopus 로고
    • Initial sequencing and analysis of the human genome
    • DOI 10.1038/35057062
    • Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature. 2001;409:860-921. (Pubitemid 32165345)
    • (2001) Nature , vol.409 , Issue.6822 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 6
    • 20444504698 scopus 로고    scopus 로고
    • The genetic epidemiology of neurodegenerative disease
    • DOI 10.1172/JCI24761
    • Bertram L, Tanzi RE. The genetic epidemiology of neurodegenerative disease. J Clin Invest. 2005;115:1449-57. (Pubitemid 40814649)
    • (2005) Journal of Clinical Investigation , vol.115 , Issue.6 , pp. 1449-1457
    • Bertram, L.1    Tanzi, R.E.2
  • 7
    • 0032408458 scopus 로고    scopus 로고
    • Molecular genetics of Alzheimer's disease
    • Cruts M, Van Broeckhoven C. Molecular genetics of Alzheimer's disease. Ann Med. 1998;30:560-5. (Pubitemid 29012304)
    • (1998) Annals of Medicine , vol.30 , Issue.6 , pp. 560-565
    • Cruts, M.1    Van Broeckhoven, C.2
  • 8
    • 79951475133 scopus 로고    scopus 로고
    • A decade's perspective on DNA sequencing technology
    • Mardis ER. A decade's perspective on DNA sequencing technology. Nature. 2011;470:198-203.
    • (2011) Nature , vol.470 , pp. 198-203
    • Mardis, E.R.1
  • 9
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • Durbin RM, Abecasis GR, Altshuler DL, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467:1061-73.
    • (2010) Nature , vol.467 , pp. 1061-1073
    • Durbin, R.M.1    Abecasis, G.R.2    Altshuler, D.L.3
  • 10
    • 78049336905 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
    • Bilgüvar K, Oztürk AK, Louvi A, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010;467:207-10.
    • (2010) Nature , vol.467 , pp. 207-210
    • Bilgüvar, K.1    Oztürk, A.K.2    Louvi, A.3
  • 11
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet. 2010;42:790-3.
    • (2010) Nat Genet , vol.42 , pp. 790-793
    • Ng, S.B.1    Bigham, A.W.2    Buckingham, K.J.3
  • 12
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med. 2010;362:1181-91.
    • (2010) N Engl J Med , vol.362 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 14
    • 77956877621 scopus 로고    scopus 로고
    • Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: A genome-wide association study
    • Shatunov A, Mok K, Newhouse S, et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 2010;9:986-94.
    • (2010) Lancet Neurol , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3
  • 15
    • 80051786821 scopus 로고    scopus 로고
    • International Parkinson's disease genetics consortium: Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies
    • [Accessed February 20, 2011]
    • International Parkinson's Disease Genetics Consortium: Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011. Available at: http://www.ncbi.nlm.nih.gov/pubmed/21292315. [Accessed February 20, 2011].
    • (2011) Lancet
  • 18
    • 77953283403 scopus 로고    scopus 로고
    • Genetic evidence for the involvement of lipid metabolism in Alzheimer's disease
    • Jones L, Harold D, Williams J. Genetic evidence for the involvement of lipid metabolism in Alzheimer's disease. Biochim Biophys Acta. 2010;1801:754-61.
    • (2010) Biochim Biophys Acta , vol.1801 , pp. 754-761
    • Jones, L.1    Harold, D.2    Williams, J.3
  • 19
    • 77956189276 scopus 로고    scopus 로고
    • APP, APOE, complement receptor 1, clusterin and PICALM and their involvement in the herpes simplex life cycle
    • Carter CJ. APP, APOE, complement receptor 1, clusterin and PICALM and their involvement in the herpes simplex life cycle. Neurosci Lett. 2010;483:96-100.
    • (2010) Neurosci Lett , vol.483 , pp. 96-100
    • Carter, C.J.1
  • 20
    • 77957927865 scopus 로고    scopus 로고
    • The genetics of Alzheimer disease: Back to the future
    • Bertram L, Lill CM, Tanzi RE. The genetics of Alzheimer disease: back to the future. Neuron. 2010;68:270-81.
    • (2010) Neuron , vol.68 , pp. 270-281
    • Bertram, L.1    Lill, C.M.2    Tanzi, R.E.3
  • 21
    • 77954724831 scopus 로고    scopus 로고
    • Advances and perspectives from genetic research: Development of biological markers in Alzheimer's disease
    • Zetzsche T, Rujescu D, Hardy J, Hampel H. Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease. Expert Rev Mol Diagn. 2010;10:667-90.
    • (2010) Expert Rev Mol Diagn , vol.10 , pp. 667-690
    • Zetzsche, T.1    Rujescu, D.2    Hardy, J.3    Hampel, H.4
  • 22
    • 79951499355 scopus 로고    scopus 로고
    • The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels
    • Schjeide BM, Schnack C, Lambert J, et al. The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels. Arch Gen Psychiatry. 2011;68:207-13.
    • (2011) Arch Gen Psychiatry , vol.68 , pp. 207-213
    • Schjeide, B.M.1    Schnack, C.2    Lambert, J.3
  • 23
    • 77951731266 scopus 로고    scopus 로고
    • The pursuit of genome-wide association studies: Where are we now?
    • Ku CS, Loy EY, Pawitan Y, Chia KS. The pursuit of genome-wide association studies: where are we now? J Hum Genet. 2010;55:195-206.
    • (2010) J Hum Genet , vol.55 , pp. 195-206
    • Ku, C.S.1    Loy, E.Y.2    Pawitan, Y.3    Chia, K.S.4
  • 24
    • 68449086236 scopus 로고    scopus 로고
    • Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
    • Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature. 2009;460:748-52.
    • (2009) Nature , vol.460 , pp. 748-752
    • Purcell, S.M.1    Wray, N.R.2    Stone, J.L.3
  • 26
    • 0029087026 scopus 로고
    • Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    • Levy-Lahad E, Wasco W, Poorkaj P, et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science. 1995;269:973-7.
    • (1995) Science , vol.269 , pp. 973-977
    • Levy-Lahad, E.1    Wasco, W.2    Poorkaj, P.3
  • 29
    • 77649136250 scopus 로고    scopus 로고
    • Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions
    • Van Deerlin VM, Sleiman PMA, Martinez-Lage M, et al. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nat Genet. 2010;42:234-9.
    • (2010) Nat Genet , vol.42 , pp. 234-239
    • Van Deerlin, V.M.1    Pma, S.2    Martinez-Lage, M.3
  • 30
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet. 2009;41:1088-93.
    • (2009) Nat Genet , vol.41 , pp. 1088-1093
    • Harold, D.1    Abraham, R.2    Hollingworth, P.3
  • 31
    • 70349956433 scopus 로고    scopus 로고
    • Finding the missing heritability of complex diseases
    • Manolio TA, Collins FS, Cox NJ, et al. Finding the missing heritability of complex diseases. Nature. 2009;461:747-53.
    • (2009) Nature , vol.461 , pp. 747-753
    • Manolio, T.A.1    Collins, F.S.2    Cox, N.J.3
  • 32
    • 77951702343 scopus 로고    scopus 로고
    • Genetic heterogeneity in human disease
    • McClellan J, King M. Genetic heterogeneity in human disease. Cell. 2010;141:210-7.
    • (2010) Cell , vol.141 , pp. 210-217
    • McClellan, J.1    King, M.2
  • 33
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009;361:1651-61.
    • (2009) N Engl J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 36
    • 75149117452 scopus 로고    scopus 로고
    • Genome-wide scan of copy number variation in late-onset Alzheimer's disease
    • Heinzen EL, Need AC, Hayden KM, et al. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis. 2010;19:69-77.
    • (2010) J Alzheimers Dis , vol.19 , pp. 69-77
    • Heinzen, E.L.1    Need, A.C.2    Hayden, K.M.3
  • 40
    • 38349038412 scopus 로고    scopus 로고
    • Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease
    • Li H, Wetten S, Li L, et al. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol. 2008;65:45-53.
    • (2008) Arch Neurol , vol.65 , pp. 45-53
    • Li, H.1    Wetten, S.2    Li, L.3
  • 41
    • 58849104938 scopus 로고    scopus 로고
    • Genome screen of lateonset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis
    • Poduslo SE, Huang R, Huang J, Smith S. Genome screen of lateonset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:50-5.
    • (2009) Am J Med Genet B Neuropsychiatr Genet , vol.150 B , pp. 50-55
    • Poduslo, S.E.1    Huang, R.2    Huang, J.3    Smith, S.4
  • 42
    • 68049148052 scopus 로고    scopus 로고
    • A genome-wide association study for late-onset Alzheimer's disease using DNA pooling
    • Abraham R, Moskvina V, Sims R, et al. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics. 2008;1:44.
    • (2008) BMC Med Genomics , vol.1 , pp. 44
    • Abraham, R.1    Moskvina, V.2    Sims, R.3
  • 43
    • 55049142500 scopus 로고    scopus 로고
    • Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE
    • Bertram L, Lange C, Mullin K, et al. Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet. 2008;83:623-32.
    • (2008) Am J Hum Genet , vol.83 , pp. 623-632
    • Bertram, L.1    Lange, C.2    Mullin, K.3
  • 44
    • 58049200536 scopus 로고    scopus 로고
    • Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease
    • Beecham GW, Martin ER, Li Y, et al. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet. 2009;84:35-43.
    • (2009) Am J Hum Genet , vol.84 , pp. 35-43
    • Beecham, G.W.1    Martin, E.R.2    Li, Y.3
  • 45
    • 59149084048 scopus 로고    scopus 로고
    • Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease
    • Carrasquillo MM, Zou F, Pankratz VS, et al. Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet. 2009;41(2):192-8.
    • (2009) Nat Genet , vol.41 , Issue.2 , pp. 192-198
    • Carrasquillo, M.M.1    Zou, F.2    Pankratz, V.S.3
  • 46
    • 78549264026 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert J, Heath S, Even G, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009;41:1094-9.
    • (2009) Nat Genet , vol.41 , pp. 1094-1099
    • Lambert, J.1    Heath, S.2    Even, G.3
  • 47
    • 68449089420 scopus 로고    scopus 로고
    • Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease
    • Potkin SG, Guffanti G, Lakatos A, et al. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS ONE. 2009;4:e6501.
    • (2009) PLoS ONE , vol.4
    • Potkin, S.G.1    Guffanti, G.2    Lakatos, A.3
  • 48
    • 77952307991 scopus 로고    scopus 로고
    • Genome-wide analysis of genetic loci associated with Alzheimer disease
    • Seshadri S, Fitzpatrick AL, Ikram MA, et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA. 2010;303:1832-40.
    • (2010) JAMA , vol.303 , pp. 1832-1840
    • Seshadri, S.1    Fitzpatrick, A.L.2    Ikram, M.A.3
  • 49
    • 77957910119 scopus 로고    scopus 로고
    • Dementia revealed: Novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities
    • [Accessed February 21, 2011]
    • Naj AC, Beecham GW, Martin ER, et al. Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet. 2010;6. Available at: http://www.ncbi.nlm.nih.gov/pubmed/20885792. [Accessed February 21, 2011].
    • (2010) PLoS Genet , vol.6
    • Naj, A.C.1    Beecham, G.W.2    Martin, E.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.