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Volumn 72, Issue 4, 2015, Pages 414-422

A multiancestral genome-wide exome array study of Alzheimer Disease, frontotemporal dementia, and progressive supranuclear palsy

(35)  Chen, Jason A a   Wang, Qing a   Davis Turak, Jeremy a   Li, Yun a   Karydas, Anna M b   Hsu, Sandy C a   Sears, Renee L a   Chatzopoulou, Doxa a   Huang, Alden Y a   Wojta, Kevin J a   Klein, Eric a   Lee, Jason a   Beekly, Duane L c   Boxer, Adam b   Faber, Kelley M d   Haase, Claudia M e   Miller, Josh f   Poon, Wayne W g   Rosen, Ami h   Rosen, Howard b   more..


Author keywords

[No Author keywords available]

Indexed keywords

ABCA7 GENE; ADULT; AFRICAN AMERICAN; AGED; ALZHEIMER DISEASE; ANIMAL TISSUE; ARTICLE; ASIAN; BRAIN REGION; CEREBELLUM; COHORT ANALYSIS; CONTROLLED STUDY; DATA ANALYSIS; DYSF GENE; ETHNIC DIFFERENCE; EUROPEAN; EVIDENCE BASED MEDICINE; EXOME; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MICROARRAY KIT; NEUROPATHOLOGY; NONHUMAN; PAXIP1 GENE; PREFRONTAL CORTEX; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; STATISTICAL ANALYSIS; TISSUE DISTRIBUTION; VERY ELDERLY; VISUAL CORTEX; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MIDDLE AGED; PROCEDURES; RISK;

EID: 84928152687     PISSN: 21686149     EISSN: 21686157     Source Type: Journal    
DOI: 10.1001/jamaneurol.2014.4040     Document Type: Article
Times cited : (37)

References (38)
  • 1
    • 0031057837 scopus 로고    scopus 로고
    • Exploring the etiology of Alzheimer disease using molecular genetics
    • Lendon CL, Ashall F, Goate AM. Exploring the etiology of Alzheimer disease using molecular genetics. JAMA. 1997;277(10):825-831.
    • (1997) JAMA , vol.277 , Issue.10 , pp. 825-831
    • Lendon, C.L.1    Ashall, F.2    Goate, A.M.3
  • 2
    • 0025735884 scopus 로고
    • Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage
    • Pericak-Vance MA, Bebout JL, Gaskell PC Jr, et al. Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet. 1991;48(6):1034-1050.
    • (1991) Am J Hum Genet , vol.48 , Issue.6 , pp. 1034-1050
    • Pericak-Vance, M.A.1    Bebout, J.L.2    Gaskell, P.C.3
  • 3
    • 79955464911 scopus 로고    scopus 로고
    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
    • Naj AC, Jun G, Beecham GW, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet. 2011;43(5):436-441.
    • (2011) Nat Genet , vol.43 , Issue.5 , pp. 436-441
    • Naj, A.C.1    Jun, G.2    Beecham, G.W.3
  • 4
    • 79955484414 scopus 로고    scopus 로고
    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
    • Hollingworth P, Harold D, Sims R, et al Alzheimer's Disease Neuroimaging Initiative; CHARGE Consortium; EADI1 Consortium. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011;43(5):429-435.
    • (2011) Nat Genet , vol.43 , Issue.5 , pp. 429-435
    • Hollingworth, P.1    Harold, D.2    Sims, R.3    Alzheimer's Disease Neuroimaging Initiative4
  • 6
    • 84864505483 scopus 로고    scopus 로고
    • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases
    • Coppola G, Chinnathambi S, Lee JJ, et al Alzheimer's Disease Genetics Consortium. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012;21(15):3500-3512.
    • (2012) Hum Mol Genet , vol.21 , Issue.15 , pp. 3500-3512
    • Coppola, G.1    Chinnathambi, S.2    Lee, J.J.3
  • 7
    • 84872057940 scopus 로고    scopus 로고
    • TREM2 variants in Alzheimer's disease
    • Guerreiro R, Wojtas A, Bras J, et al Alzheimer Genetic Analysis Group. TREM2 variants in Alzheimer's disease. NEngl JMed. 2013;368(2):117-127.
    • (2013) NEngl J Med , vol.368 , Issue.2 , pp. 117-127
    • Guerreiro, R.1    Wojtas, A.2    Bras, J.3
  • 8
    • 84864981763 scopus 로고    scopus 로고
    • Advances in understanding the molecular basis of frontotemporal dementia
    • Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol. 2012;8(8):423-434.
    • (2012) Nat Rev Neurol , vol.8 , Issue.8 , pp. 423-434
    • Rademakers, R.1    Neumann, M.2    Mackenzie, I.R.3
  • 9
    • 0033041179 scopus 로고    scopus 로고
    • Association of an extended haplotype in the tau gene with progressive supranuclear palsy
    • Baker M, Litvan I, Houlden H, et al. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet. 1999;8(4):711-715.
    • (1999) Hum Mol Genet , vol.8 , Issue.4 , pp. 711-715
    • Baker, M.1    Litvan, I.2    Houlden, H.3
  • 10
    • 24644502474 scopus 로고    scopus 로고
    • Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration
    • Pittman AM, Myers AJ, Abou-Sleiman P, et al. Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet. 2005;42(11):837-846.
    • (2005) J Med Genet , vol.42 , Issue.11 , pp. 837-846
    • Pittman, A.M.1    Myers, A.J.2    Abou-Sleiman, P.3
  • 11
    • 79959689333 scopus 로고    scopus 로고
    • Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
    • Höglinger GU, Melhem NM, Dickson DW, et al PSP Genetics Study Group. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011;43(7):699-705.
    • (2011) Nat Genet , vol.43 , Issue.7 , pp. 699-705
    • Höglinger, G.U.1    Melhem, N.M.2    Dickson, D.W.3
  • 12
    • 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(3):234-239.
    • (2010) Nat Genet , vol.42 , Issue.3 , pp. 234-239
    • Van Deerlin, V.M.1    Sleiman, P.M.A.2    Martinez-Lage, M.3
  • 13
    • 84902509590 scopus 로고    scopus 로고
    • Frontotemporal dementia and its subtypes: A genome-wide association study
    • Ferrari R, Hernandez DG, Nalls MA, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014;13(7):686-699.
    • (2014) Lancet Neurol , vol.13 , Issue.7 , pp. 686-699
    • Ferrari, R.1    Hernandez, D.G.2    Nalls, M.A.3
  • 14
    • 84873031286 scopus 로고    scopus 로고
    • Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis
    • Lee SH, Harold D, Nyholt DR, et al ANZGene Consortium, International Endogene Consortium, the Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Hum Mol Genet. 2013;22(4):832-841.
    • (2013) Hum Mol Genet , vol.22 , Issue.4 , pp. 832-841
    • Lee, S.H.1    Harold, D.2    Nyholt, D.R.3
  • 15
    • 32244435907 scopus 로고    scopus 로고
    • Role of genes and environments for explaining Alzheimer disease
    • GatzM, Reynolds CA, Fratiglioni L, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry. 2006;63(2):168-174.
    • (2006) Arch Gen Psychiatry , vol.63 , Issue.2 , pp. 168-174
    • Gatz, M.1    Reynolds, C.A.2    Fratiglioni, L.3
  • 16
    • 84873085571 scopus 로고    scopus 로고
    • Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion
    • Huyghe JR, Jackson AU, Fogarty MP, et al. Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion. Nat Genet. 2013;45(2):197-201.
    • (2013) Nat Genet , vol.45 , Issue.2 , pp. 197-201
    • Huyghe, J.R.1    Jackson, A.U.2    Fogarty, M.P.3
  • 17
    • 84882257642 scopus 로고    scopus 로고
    • A genome-wide association study (GWAS) for bronchopulmonary dysplasia
    • Wang H, St Julien KR, Stevenson DK, et al. A genome-wide association study (GWAS) for bronchopulmonary dysplasia. Pediatrics. 2013;132(2):290-297.
    • (2013) Pediatrics , vol.132 , Issue.2 , pp. 290-297
    • Wang, H.1    St Julien, K.R.2    Stevenson, D.K.3
  • 18
    • 84893756641 scopus 로고    scopus 로고
    • NHLBI GO Exome Sequencing Project. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
    • Peloso GM, Auer PL, Bis JC, et al; NHLBI GO Exome Sequencing Project. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94(2):223-232.
    • (2014) Am J Hum Genet , vol.94 , Issue.2 , pp. 223-232
    • Peloso, G.M.1    Auer, P.L.2    Bis, J.C.3
  • 19
    • 84905641946 scopus 로고    scopus 로고
    • No large-effect low-frequency coding variation found formyocardial infarction
    • Holmen OL, Zhang H, ZhouW, et al. No large-effect low-frequency coding variation found formyocardial infarction. Hum Mol Genet. 2014;23(17):4721-4728.
    • (2014) Hum Mol Genet , vol.23 , Issue.17 , pp. 4721-4728
    • Holmen, O.L.1    Zhang, H.2    Zhou, W.3
  • 20
    • 84899907308 scopus 로고    scopus 로고
    • Exome array study did not identify novel variants in Alzheimer's disease
    • Chung SJ, KimMJ, Kim J, et al. Exome array study did not identify novel variants in Alzheimer's disease. Neurobiol Aging. 2014;35(8):1958.e13-1958.e14.
    • (2014) Neurobiol Aging , vol.35 , Issue.8 , pp. 1958.e13-1958.e14
    • Chung, S.J.1    Kim, M.J.2    Kim, J.3
  • 21
    • 84875570271 scopus 로고    scopus 로고
    • Genetic investigation in frontotemporal dementia and Alzheimer's disease: The GIFT Study
    • Accessed December 19, 2014
    • Coppola G, Miller BL, Chui H, et al. Genetic investigation in frontotemporal dementia and Alzheimer's disease: the GIFT Study. Ann Neurol. 2007;62(suppl 11):S52. Abstract T-10. http://onlinelibrary.wiley.com/doi/10.1002/ana.v62:11%2B/issuetoc. Accessed December 19, 2014.
    • (2007) Ann Neurol , vol.62 , pp. S52
    • Coppola, G.1    Miller, B.L.2    Chui, H.3
  • 22
    • 84897398392 scopus 로고    scopus 로고
    • An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy
    • Li Y, Chen JA, Sears RL, et al. An epigenetic signature in peripheral blood associated with the haplotype on 17q21.31, a risk factor for neurodegenerative tauopathy. PLoS Genet. 2014;10(3):e1004211. doi:10.1371/journal.pgen.1004211.
    • (2014) PLoS Genet , vol.10 , Issue.3 , pp. e1004211
    • Li, Y.1    Chen, J.A.2    Sears, R.L.3
  • 23
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • Wu MC, Lee S, Cai T, Li Y, BoehnkeM, Lin X. Rare-variant association testing for sequencing data with the sequence kernel association test. Am J Hum Genet. 2011;89(1):82-93.
    • (2011) Am J Hum Genet , vol.89 , Issue.1 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6
  • 24
    • 84876907931 scopus 로고    scopus 로고
    • Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease
    • Zhang B, Gaiteri C, Bodea LG, et al. Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease. Cell. 2013;153(3):707-720.
    • (2013) Cell , vol.153 , Issue.3 , pp. 707-720
    • Zhang, B.1    Gaiteri, C.2    Bodea, L.G.3
  • 25
    • 64149105182 scopus 로고    scopus 로고
    • NACC-Neuropathology Group. Genetic control of human brain transcript expression in Alzheimer disease
    • Webster JA, Gibbs JR, Clarke J, et al NACC-Neuropathology Group. Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet. 2009;84(4):445-458.
    • (2009) Am J Hum Genet , vol.84 , Issue.4 , pp. 445-458
    • Webster, J.A.1    Gibbs, J.R.2    Clarke, J.3
  • 27
    • 25444507964 scopus 로고    scopus 로고
    • Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample
    • Rademakers R, Cruts M, Sleegers K, et al. Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample. Am J Hum Genet. 2005;77(4):643-652.
    • (2005) Am J Hum Genet , vol.77 , Issue.4 , pp. 643-652
    • Rademakers, R.1    Cruts, M.2    Sleegers, K.3
  • 28
    • 84891837451 scopus 로고    scopus 로고
    • The Human Gene Mutation Database: Building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
    • Stenson PD, MortM, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133(1):1-9.
    • (2014) Hum Genet , vol.133 , Issue.1 , pp. 1-9
    • Stenson, P.D.1    Mort, M.2    Ball, E.V.3    Shaw, K.4    Phillips, A.5    Cooper, D.N.6
  • 29
    • 84875922261 scopus 로고    scopus 로고
    • Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ε4,and the risk of late-onset Alzheimer disease in African Americans
    • Reitz C, Jun G, Naj A, et al Alzheimer Disease Genetics Consortium. Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ε4,and the risk of late-onset Alzheimer disease in African Americans. JAMA. 2013;309(14):1483-1492.
    • (2013) JAMA , vol.309 , Issue.14 , pp. 1483-1492
    • Reitz, C.1    Jun, G.2    Naj, A.3
  • 30
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998;20(1):31-36.
    • (1998) Nat Genet , vol.20 , Issue.1 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 31
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet. 1998;20(1):37-42.
    • (1998) Nat Genet , vol.20 , Issue.1 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3
  • 32
    • 0037738510 scopus 로고    scopus 로고
    • Defective membrane repair in dysferlin-deficient muscular dystrophy
    • Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423(6936):168-172.
    • (2003) Nature , vol.423 , Issue.6936 , pp. 168-172
    • Bansal, D.1    Miyake, K.2    Vogel, S.S.3
  • 33
    • 34548009359 scopus 로고    scopus 로고
    • Dysferlin and muscle membrane repair
    • Han R, Campbell KP. Dysferlin and muscle membrane repair. Curr Opin Cell Biol. 2007;19(4):409-416.
    • (2007) Curr Opin Cell Biol , vol.19 , Issue.4 , pp. 409-416
    • Han, R.1    Campbell, K.P.2
  • 34
    • 33748568160 scopus 로고    scopus 로고
    • Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis
    • Hochmeister S, Grundtner R, Bauer J, et al. Dysferlin is a new marker for leaky brain blood vessels in multiple sclerosis. J Neuropathol Exp Neurol. 2006;65(9):855-865.
    • (2006) J Neuropathol Exp Neurol , vol.65 , Issue.9 , pp. 855-865
    • Hochmeister, S.1    Grundtner, R.2    Bauer, J.3
  • 35
    • 84888183521 scopus 로고    scopus 로고
    • Dysferlin is a newly identified binding partner of AßPP and it co-aggregates with amyloid-β42 within sporadic inclusion-body myositis (s-IBM) muscle fibers
    • Cacciottolo M, Nogalska A, D'Agostino C, Engel WK, Askanas V. Dysferlin is a newly identified binding partner of AßPP and it co-aggregates with amyloid-β42 within sporadic inclusion-body myositis (s-IBM) muscle fibers. Acta Neuropathol. 2013;126(5):781-783.
    • (2013) Acta Neuropathol , vol.126 , Issue.5 , pp. 781-783
    • Cacciottolo, M.1    Nogalska, A.2    D'Agostino, C.3    Engel, W.K.4    Askanas, V.5
  • 36
    • 11244300690 scopus 로고    scopus 로고
    • Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation
    • Jowsey PA, Doherty AJ, Rouse J. Human PTIP facilitates ATM-mediated activation of p53 and promotes cellular resistance to ionizing radiation. J Biol Chem. 2004;279(53):55562-55569.
    • (2004) J Biol Chem , vol.279 , Issue.53 , pp. 55562-55569
    • Jowsey, P.A.1    Doherty, A.J.2    Rouse, J.3
  • 37
    • 34548771748 scopus 로고    scopus 로고
    • Phospho-epitope binding by the BRCT domains of hPTIP controls multiple aspects of the cellular response to DNA damage
    • Munoz IM, Jowsey PA, Toth R, Rouse J. Phospho-epitope binding by the BRCT domains of hPTIP controls multiple aspects of the cellular response to DNA damage. Nucleic Acids Res. 2007;35(16):5312-5322.
    • (2007) Nucleic Acids Res , vol.35 , Issue.16 , pp. 5312-5322
    • Munoz, I.M.1    Jowsey, P.A.2    Toth, R.3    Rouse, J.4
  • 38
    • 67650549751 scopus 로고    scopus 로고
    • PTIP regulates 53BP1 and SMC1 at the DNA damage sites
    • Wu J, PrindleMJ, Dressler GR, Yu X. PTIP regulates 53BP1 and SMC1 at the DNA damage sites. J Biol Chem. 2009;284(27):18078-18084.
    • (2009) J Biol Chem , vol.284 , Issue.27 , pp. 18078-18084
    • Wu, J.1    Prindle, M.J.2    Dressler, G.R.3    Yu, X.4


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