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Volumn 48, Issue 9, 2016, Pages 1043-1048

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(177)  Van Rheenen, Wouter a,b,c   Shatunov, Aleksey a   Dekker, Annelot M c   McLaughlin, Russell L a   Diekstra, Frank P b   Pulit, Sara L d,e   Van Der Spek, Rick A A f   Võsa, Urmo a,g   De Jong, Simone h   Robinson, Matthew R i   Yang, Jian a   Fogh, Isabella a   Van Doormaal, Perry T C d   Tazelaar, Gijs H P a   Koppers, Max e   Blokhuis, Anna M f,g   Sproviero, William h   Jones, Ashley R a   Kenna, Kevin P s   Van Eijk, Kristel R t   more..


Author keywords

[No Author keywords available]

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 21; COHORT ANALYSIS; CONTROLLED STUDY; GENE FREQUENCY; GENE LOCUS; GENE MAPPING; GENE REPLICATION; GENE STRUCTURE; GENETIC RISK; GENETIC TRAIT; GENETIC VARIABILITY; GENOME-WIDE ASSOCIATION STUDY; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MORBIDITY; MULTICENTER STUDY; OPEN READING FRAME; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; MUTATION; NETHERLANDS;

EID: 84979596905     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3622     Document Type: Article
Times cited : (426)

References (32)
  • 1
    • 80755128213 scopus 로고    scopus 로고
    • Clinical diagnosis and management of amyotrophic lateral sclerosis
    • Hardiman, O., van den Berg, L.H. & Kiernan, M.C. Clinical diagnosis and management of amyotrophic lateral sclerosis. Nat. Rev. Neurol. 7, 639-649 (2011).
    • (2011) Nat. Rev. Neurol. , vol.7 , pp. 639-649
    • Hardiman, O.1    Van Den Berg, L.H.2    Kiernan, M.C.3
  • 2
    • 78649632679 scopus 로고    scopus 로고
    • An estimate of amyotrophic lateral sclerosis heritability using twin data
    • Al-Chalabi, A. et al. An estimate of amyotrophic lateral sclerosis heritability using twin data. J. Neurol. Neurosurg. Psychiatry 81, 1324-1326 (2010).
    • (2010) J. Neurol. Neurosurg. Psychiatry , vol.81 , pp. 1324-1326
    • Al-Chalabi, A.1
  • 3
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifes 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es, M.A. et al. Genome-wide association study identifes 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat. Genet. 41, 1083-1087 (2009).
    • (2009) Nat. Genet. , vol.41 , pp. 1083-1087
    • Van Es, M.A.1
  • 4
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: A genome-wide association study
    • Laaksovirta, H. et al. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 9, 978-985 (2010).
    • (2010) Lancet Neurol. , vol.9 , pp. 978-985
    • Laaksovirta, H.1
  • 5
    • 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. et al. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol. 9, 986-994 (2010).
    • (2010) Lancet Neurol. , vol.9 , pp. 986-994
    • Shatunov, A.1
  • 6
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
    • (2011) Neuron , vol.72 , pp. 245-256
    • DeJesus-Hernandez, M.1
  • 7
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton, A.E. et al. A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1
  • 8
    • 84897859556 scopus 로고    scopus 로고
    • A genome-wide association meta-analysis identifes a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis
    • Fogh, I. et al. A genome-wide association meta-analysis identifes a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum. Mol. Genet. 23, 2220-2231 (2014).
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 2220-2231
    • Fogh, I.1
  • 9
    • 84975795680 scopus 로고    scopus 로고
    • An integrated map of genetic variation from 1, 092 human genomes
    • 1000 Genomes Project Consortium. An integrated map of genetic variation from 1, 092 human genomes. Nature 491, 56-65 (2012).
    • (2012) Nature , vol.491 , pp. 56-65
  • 10
    • 84905579746 scopus 로고    scopus 로고
    • Whole-genome sequence variation, population structure and demographic history of the Dutch population
    • Genome of the Netherlands Consortium. Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat. Genet. 46, 818-825 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 818-825
  • 11
    • 84895801913 scopus 로고    scopus 로고
    • Advantages and pitfalls in the application of mixed-model association methods
    • Yang, J., Zaitlen, N.A., Goddard, M.E., Visscher, P.M. & Price, A.L. Advantages and pitfalls in the application of mixed-model association methods. Nat. Genet. 46, 100-106 (2014).
    • (2014) Nat. Genet. , vol.46 , pp. 100-106
    • Yang, J.1    Zaitlen, N.A.2    Goddard, M.E.3    Visscher, P.M.4    Price, A.L.5
  • 12
    • 84923946495 scopus 로고    scopus 로고
    • LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
    • Bulik-Sullivan, B.K. et al. LD Score regression distinguishes confounding from polygenicity in genome-wide association studies. Nat. Genet. 47, 291-295 (2015).
    • (2015) Nat. Genet. , vol.47 , pp. 291-295
    • Bulik-Sullivan, B.K.1
  • 13
    • 79959689333 scopus 로고    scopus 로고
    • Identifcation of common variants infuencing risk of the tauopathy progressive supranuclear palsy
    • Höglinger, G.U. et al. Identifcation of common variants infuencing risk of the tauopathy progressive supranuclear palsy. Nat. Genet. 43, 699-705 (2011).
    • (2011) Nat. Genet. , vol.43 , pp. 699-705
    • Höglinger, G.U.1
  • 14
    • 84905822004 scopus 로고    scopus 로고
    • Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia
    • Irwin, D.J. et al. Myelin oligodendrocyte basic protein and prognosis in behavioral-variant frontotemporal dementia. Neurology 83, 502-509 (2014).
    • (2014) Neurology , vol.83 , pp. 502-509
    • Irwin, D.J.1
  • 15
    • 84945749129 scopus 로고    scopus 로고
    • Exome sequencing in amyotrophic lateral sclerosis identifes risk genes and pathways
    • Cirulli, E.T. et al. Exome sequencing in amyotrophic lateral sclerosis identifes risk genes and pathways. Science 347, 1436-1441 (2015).
    • (2015) Science , vol.347 , pp. 1436-1441
    • Cirulli, E.T.1
  • 16
    • 84928695187 scopus 로고    scopus 로고
    • Haploinsuffciency of TBK1 causes familial ALS and fronto-temporal dementia
    • Freischmidt, A. et al. Haploinsuffciency of TBK1 causes familial ALS and fronto-temporal dementia. Nat. Neurosci. 18, 631-636 (2015).
    • (2015) Nat. Neurosci. , vol.18 , pp. 631-636
    • Freischmidt, A.1
  • 17
    • 31744435871 scopus 로고    scopus 로고
    • Joint analysis is more effcient than replication-based analysis for two-stage genome-wide association studies
    • Skol, A.D., Scott, L.J., Abecasis, G.R. & Boehnke, M. Joint analysis is more effcient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet. 38, 209-213 (2006).
    • (2006) Nat. Genet. , vol.38 , pp. 209-213
    • Skol, A.D.1    Scott, L.J.2    Abecasis, G.R.3    Boehnke, M.4
  • 18
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: Annotation to enhance discovery from GWAS
    • Nicolae, D.L. et al. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 6, e1000888 (2010).
    • (2010) PLoS Genet. , vol.6 , pp. e1000888
    • Nicolae, D.L.1
  • 19
    • 84921750431 scopus 로고    scopus 로고
    • Genetic variability in the regulation of gene expression in ten regions of the human brain
    • Ramasamy, A. et al. Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat. Neurosci. 17, 1418-1428 (2014).
    • (2014) Nat. Neurosci. , vol.17 , pp. 1418-1428
    • Ramasamy, A.1
  • 20
    • 84879324656 scopus 로고    scopus 로고
    • Pitfalls of predicting complex traits from SNPs
    • Wray, N.R. et al. Pitfalls of predicting complex traits from SNPs. Nat. Rev. Genet. 14, 507-515 (2013).
    • (2013) Nat. Rev. Genet. , vol.14 , pp. 507-515
    • Wray, N.R.1
  • 21
    • 33846295930 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis in an urban setting: A population based study of inner city London
    • Johnston, C.A. et al. Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. J. Neurol. 253, 1642-1643 (2006).
    • (2006) J. Neurol. , vol.253 , pp. 1642-1643
    • Johnston, C.A.1
  • 22
    • 84862777863 scopus 로고    scopus 로고
    • Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs
    • Lee, S.H. et al. Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs. Nat. Genet. 44, 247-250 (2012).
    • (2012) Nat. Genet. , vol.44 , pp. 247-250
    • Lee, S.H.1
  • 23
    • 84923096381 scopus 로고    scopus 로고
    • Biological interpretation of genome-wide association studies using predicted gene functions
    • Pers, T.H. et al. Biological interpretation of genome-wide association studies using predicted gene functions. Nat. Commun. 6, 5890 (2015).
    • (2015) Nat. Commun. , vol.6 , pp. 5890
    • Pers, T.H.1
  • 25
  • 26
    • 79953307660 scopus 로고    scopus 로고
    • Functional characterization of putative cilia genes by high-content analysis
    • Lai, C.K. et al. Functional characterization of putative cilia genes by high-content analysis. Mol. Biol. Cell 22, 1104-1119 (2011).
    • (2011) Mol. Biol. Cell , vol.22 , pp. 1104-1119
    • Lai, C.K.1
  • 27
    • 79960554348 scopus 로고    scopus 로고
    • Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice
    • Ma, X., Peterson, R. & Turnbull, J. Adenylyl cyclase type 3, a marker of primary cilia, is reduced in primary cell culture and in lumbar spinal cord in situ in G93A SOD1 mice. BMC Neurosci. 12, 71 (2011).
    • (2011) BMC Neurosci. , vol.12 , pp. 71
    • Ma, X.1    Peterson, R.2    Turnbull, J.3
  • 28
    • 0031590286 scopus 로고    scopus 로고
    • Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3
    • Krohn, K. et al. Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. Biochem. Biophys. Res. Commun. 238, 806-810 (1997).
    • (1997) Biochem. Biophys. Res. Commun. , vol.238 , pp. 806-810
    • Krohn, K.1
  • 29
    • 84943567230 scopus 로고    scopus 로고
    • The NEK1 interactor, C21orf2, is required for effcient DNA damage repair
    • Fang, X. et al. The NEK1 interactor, C21orf2, is required for effcient DNA damage repair. Acta Biochim. Biophys. Sin. (Shanghai) 47, 834-841 (2015).
    • (2015) Acta Biochim. Biophys. Sin. (Shanghai) , vol.47 , pp. 834-841
    • Fang, X.1
  • 30
    • 84931275704 scopus 로고    scopus 로고
    • Neurodegeneration in C. Elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neurons
    • Vérièpe, J., Fossouo, L. & Parker, J.A. Neurodegeneration in C. elegans models of ALS requires TIR-1/Sarm1 immune pathway activation in neurons. Nat. Commun. 6, 7319 (2015).
    • (2015) Nat. Commun. , vol.6 , pp. 7319
    • Vérièpe, J.1    Fossouo, L.2    Parker, J.A.3
  • 31
    • 84902504030 scopus 로고    scopus 로고
    • Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel
    • Delaneau, O. et al. Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. Nat. Commun. 5, 3934 (2014).
    • (2014) Nat. Commun. , vol.5 , pp. 3934
    • Delaneau, O.1
  • 32
    • 84863845193 scopus 로고    scopus 로고
    • Genotype imputation with thousands of genomes
    • Howie, B., Marchini, J. & Stephens, M. Genotype imputation with thousands of genomes. G3 (Bethesda) 1, 457-470 (2011).
    • (2011) G3 (Bethesda) , vol.1 , pp. 457-470
    • Howie, B.1    Marchini, J.2    Stephens, M.3


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