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Volumn 7, Issue 4, 2012, Pages

Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS

(28)  Diekstra, Frank P a   Saris, Christiaan G J a   van Rheenen, Wouter a   Franke, Lude b   Jansen, Ritsert C b,c   van Es, Michael A a   van Vught, Paul W J a   Blauw, Hylke M a   Groen, Ewout J N a   Horvath, Steve d   Estrada, Karol e   Rivadeneira, Fernando e   Hofman, Albert e   Uitterlinden, Andre G e   Robberecht, Wim f,g   Andersen, Peter M h   Melki, Judith i   Meininger, Vincent j   Hardiman, Orla k,l   Landers, John E m,n   more..


Author keywords

[No Author keywords available]

Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CELL LOSS; CEREBROTENDINOUS XANTHOMATOSIS; CONTROLLED STUDY; CYP27A1 GENE; GENE; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOTONEURON; PATHOGENESIS; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; GENE EXPRESSION PROFILING; GENE LINKAGE DISEQUILIBRIUM; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE MAP; PATHOLOGY; PEDIGREE;

EID: 84859612326     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0035333     Document Type: Article
Times cited : (48)

References (50)
  • 1
    • 79955774490 scopus 로고    scopus 로고
    • Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
    • Byrne S, Walsh C, Lynch C, Bede P, Elamin M, et al. (2011) Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry 82: 623-627.
    • (2011) J Neurol Neurosurg Psychiatry , vol.82 , pp. 623-627
    • Byrne, S.1    Walsh, C.2    Lynch, C.3    Bede, P.4    Elamin, M.5
  • 2
    • 70350075024 scopus 로고    scopus 로고
    • Genetics of motor neuron disorders: new insights into pathogenic mechanisms
    • Dion PA, Daoud H, Rouleau GA, (2010) Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet 10: 769-782.
    • (2010) Nat Rev Genet , vol.10 , pp. 769-782
    • Dion, P.A.1    Daoud, H.2    Rouleau, G.A.3
  • 3
    • 38449113556 scopus 로고    scopus 로고
    • Genetics of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 16 (Spec No
    • Schymick JC, Talbot K, Traynor BJ, (2007) Genetics of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 16 (Spec No. 2): R233-R242.
    • (2007) , vol.2
    • Schymick, J.C.1    Talbot, K.2    Traynor, B.J.3
  • 5
    • 34548646702 scopus 로고    scopus 로고
    • ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
    • van Es MA, Van Vught PW, Blauw HM, Franke L, Saris CG, et al. (2007) ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study. Lancet Neurol 6: 869-877.
    • (2007) Lancet Neurol , vol.6 , pp. 869-877
    • van Es, M.A.1    van Vught, P.W.2    Blauw, H.M.3    Franke, L.4    Saris, C.G.5
  • 6
    • 37549062995 scopus 로고    scopus 로고
    • Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
    • van Es MA, van Vught PWJ, Blauw HM, Franke L, Saris CGJ, et al. (2008) Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 40: 29-31.
    • (2008) Nat Genet , vol.40 , pp. 29-31
    • van Es, M.A.1    van Vught, P.W.J.2    Blauw, H.M.3    Franke, L.4    Saris, C.G.J.5
  • 7
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es MA, Veldink JH, Saris CGJ, Blauw HM, van Vught PWJ, et al. (2009) Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 41: 1083-1087.
    • (2009) Nat Genet , vol.41 , pp. 1083-1087
    • van Es, M.A.1    Veldink, J.H.2    Saris, C.G.J.3    Blauw, H.M.4    van Vught, P.W.J.5
  • 8
    • 58749097964 scopus 로고    scopus 로고
    • Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
    • Simpson CL, Lemmens R, Miskiewicz K, Broom WJ, Hansen VK, et al. (2009) Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 18: 472-481.
    • (2009) Hum Mol Genet , vol.18 , pp. 472-481
    • Simpson, C.L.1    Lemmens, R.2    Miskiewicz, K.3    Broom, W.J.4    Hansen, V.K.5
  • 9
    • 64549117768 scopus 로고    scopus 로고
    • A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    • Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, et al. (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 18: 1524-1532.
    • (2009) Hum Mol Genet , vol.18 , pp. 1524-1532
    • Chiò, A.1    Schymick, J.C.2    Restagno, G.3    Scholz, S.W.4    Lombardo, F.5
  • 10
    • 58349115384 scopus 로고    scopus 로고
    • Screening for replication of genome-wide SNP associations in sporadic ALS
    • Cronin S, Tomik B, Bradley DG, Slowik A, Hardiman O, (2009) Screening for replication of genome-wide SNP associations in sporadic ALS. Eur J Hum Genet 17: 213-218.
    • (2009) Eur J Hum Genet , vol.17 , pp. 213-218
    • Cronin, S.1    Tomik, B.2    Bradley, D.G.3    Slowik, A.4    Hardiman, O.5
  • 11
    • 79952901096 scopus 로고    scopus 로고
    • No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort
    • 551.e1-551e4
    • Fernández-Santiago R, Sharma M, Berg D, Illig T, Anneser J, et al. (2011) No evidence of association of FLJ10986 and ITPR2 with ALS in a large German cohort. Neurobiol Aging 32: 551.e1-e4.
    • (2011) Neurobiol Aging , vol.32
    • Fernández-Santiago, R.1    Sharma, M.2    Berg, D.3    Illig, T.4    Anneser, J.5
  • 12
    • 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, Weale ME, Smith B, et al. (2010) 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) Lancet Neurol , vol.9 , pp. 986-994
    • Shatunov, A.1    Mok, K.2    Newhouse, S.3    Weale, M.E.4    Smith, B.5
  • 14
    • 77956876046 scopus 로고    scopus 로고
    • Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study
    • Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai S-L, et al. (2010) Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol 9: 978-985.
    • (2010) Lancet Neurol , vol.9 , pp. 978-985
    • Laaksovirta, H.1    Peuralinna, T.2    Schymick, J.C.3    Scholz, S.W.4    Lai, S.-L.5
  • 15
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • Dejesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, et al. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72: 245-256.
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3    Boxer, A.L.4    Baker, M.5
  • 16
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton AE, Majounie E, Waite A, Simón-Sánchez J, Rollinson S, et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72: 257-268.
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3    Simón-Sánchez, J.4    Rollinson, S.5
  • 18
    • 0035400051 scopus 로고    scopus 로고
    • Genetical genomics: the added value from segregation
    • Jansen RC, Nap JP, (2001) Genetical genomics: the added value from segregation. Trends Genet 17: 388-391.
    • (2001) Trends Genet , vol.17 , pp. 388-391
    • Jansen, R.C.1    Nap, J.P.2
  • 19
    • 58149330480 scopus 로고    scopus 로고
    • Using gene expression to investigate the genetic basis of complex disorders
    • Nica AC, Dermitzakis ET, (2008) Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet 17: R129-R134.
    • (2008) Hum Mol Genet , vol.17
    • Nica, A.C.1    Dermitzakis, E.T.2
  • 20
    • 77951439152 scopus 로고    scopus 로고
    • Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS
    • Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, et al. (2010) Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet 6: e1000888.
    • (2010) PLoS Genet , vol.6
    • Nicolae, D.L.1    Gamazon, E.2    Zhang, W.3    Duan, S.4    Dolan, M.E.5
  • 21
    • 34547216747 scopus 로고    scopus 로고
    • Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
    • Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, et al. (2007) Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 448: 470-473.
    • (2007) Nature , vol.448 , pp. 470-473
    • Moffatt, M.F.1    Kabesch, M.2    Liang, L.3    Dixon, A.L.4    Strachan, D.5
  • 22
    • 48349136889 scopus 로고    scopus 로고
    • Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    • Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, et al. (2008) Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet 40: 955-962.
    • (2008) Nat Genet , vol.40 , pp. 955-962
    • Barrett, J.C.1    Hansoul, S.2    Nicolae, D.L.3    Cho, J.H.4    Duerr, R.H.5
  • 23
    • 22844446947 scopus 로고    scopus 로고
    • An integrative genomics approach to infer causal associations between gene expression and disease
    • Schadt EE, Lamb J, Yang X, Zhu J, Edwards S, et al. (2005) An integrative genomics approach to infer causal associations between gene expression and disease. Nat Genet 37: 710-717.
    • (2005) Nat Genet , vol.37 , pp. 710-717
    • Schadt, E.E.1    Lamb, J.2    Yang, X.3    Zhu, J.4    Edwards, S.5
  • 24
    • 34548719076 scopus 로고    scopus 로고
    • Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes
    • Göring HHH, Curran JE, Johnson MP, Dyer TD, Charlesworth J, et al. (2007) Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes. Nat Genet 39: 1208-1216.
    • (2007) Nat Genet , vol.39 , pp. 1208-1216
    • Göring, H.H.H.1    Curran, J.E.2    Johnson, M.P.3    Dyer, T.D.4    Charlesworth, J.5
  • 25
    • 77950243833 scopus 로고    scopus 로고
    • Multiple common variants for celiac disease influencing immune gene expression
    • Dubois PCA, Trynka G, Franke L, Hunt KA, Romanos J, et al. (2010) Multiple common variants for celiac disease influencing immune gene expression. Nat Genet 42: 295-302.
    • (2010) Nat Genet , vol.42 , pp. 295-302
    • Dubois, P.C.A.1    Trynka, G.2    Franke, L.3    Hunt, K.A.4    Romanos, J.5
  • 26
    • 64149105182 scopus 로고    scopus 로고
    • Genetic control of human brain transcript expression in Alzheimer disease
    • Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, et al. (2009) Genetic control of human brain transcript expression in Alzheimer disease. Am J Hum Genet 84: 445-458.
    • (2009) Am J Hum Genet , vol.84 , pp. 445-458
    • Webster, J.A.1    Gibbs, J.R.2    Clarke, J.3    Ray, M.4    Zhang, W.5
  • 27
    • 0028142392 scopus 로고
    • El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
    • Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 124 (suppl.)
    • Brooks BR, (1994) El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial "Clinical limits of amyotrophic lateral sclerosis" workshop contributors. J Neurol Sci 124 (suppl.) pp. 96-107.
    • (1994) , pp. 96-107
    • Brooks, B.R.1
  • 28
    • 34548292504 scopus 로고    scopus 로고
    • PLINK: a tool set for whole-genome association and population-based linkage analyses
    • Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
    • (2007) Am J Hum Genet , vol.81 , pp. 559-575
    • Purcell, S.1    Neale, B.2    Todd-Brown, K.3    Thomas, L.4    Ferreira, M.A.R.5
  • 29
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratification in genome-wide association studies
    • Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.
    • (2006) Nat Genet , vol.38 , pp. 904-909
    • Price, A.L.1    Patterson, N.J.2    Plenge, R.M.3    Weinblatt, M.E.4    Shadick, N.A.5
  • 30
    • 0037316303 scopus 로고    scopus 로고
    • A comparison of normalization methods for high density oligonucleotide array data based on variance and bias
    • Bolstad BM, Irizarry RA, Astrand M, Speed TP, (2003) A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics 19: 185-193.
    • (2003) Bioinformatics , vol.19 , pp. 185-193
    • Bolstad, B.M.1    Irizarry, R.A.2    Astrand, M.3    Speed, T.P.4
  • 31
    • 0036226603 scopus 로고    scopus 로고
    • BLAT-the BLAST-like alignment tool
    • Kent WJ, (2002) BLAT-the BLAST-like alignment tool. Genome Res 12: 656-664.
    • (2002) Genome Res , vol.12 , pp. 656-664
    • Kent, W.J.1
  • 32
    • 34848914038 scopus 로고    scopus 로고
    • Capturing heterogeneity in gene expression studies by surrogate variable analysis
    • Leek JT, Storey JD, (2007) Capturing heterogeneity in gene expression studies by surrogate variable analysis. PLoS Genet 3: 1724-1735.
    • (2007) PLoS Genet , vol.3 , pp. 1724-1735
    • Leek, J.T.1    Storey, J.D.2
  • 34
  • 37
    • 77955362763 scopus 로고    scopus 로고
    • Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease
    • Fransen K, Visschedijk MC, van Sommeren S, Fu JY, Franke L, et al. (2010) Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease. Hum Mol Genet 19: 3482-3488.
    • (2010) Hum Mol Genet , vol.19 , pp. 3482-3488
    • Fransen, K.1    Visschedijk, M.C.2    van Sommeren, S.3    Fu, J.Y.4    Franke, L.5
  • 38
    • 0025215247 scopus 로고
    • Power and sample size calculations. A review and computer program
    • Dupont WD, Plummer WD, (1990) Power and sample size calculations. A review and computer program. Control Clin Trials 11: 116-128.
    • (1990) Control Clin Trials , vol.11 , pp. 116-128
    • Dupont, W.D.1    Plummer, W.D.2
  • 39
    • 0025914556 scopus 로고
    • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis
    • Cali JJ, Hsieh CL, Francke U, Russell DW, (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266: 7779-7783.
    • (1991) J Biol Chem , vol.266 , pp. 7779-7783
    • Cali, J.J.1    Hsieh, C.L.2    Francke, U.3    Russell, D.W.4
  • 40
    • 33745606740 scopus 로고    scopus 로고
    • Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
    • Gallus GN, Dotti MT, Federico A, (2006) Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 27: 143-149.
    • (2006) Neurol Sci , vol.27 , pp. 143-149
    • Gallus, G.N.1    Dotti, M.T.2    Federico, A.3
  • 41
  • 42
    • 73449097789 scopus 로고    scopus 로고
    • Lower serum lipid levels are related to respiratory impairment in patients with ALS
    • Chiò A, Calvo A, Ilardi A, Cavallo E, Moglia C, et al. (2009) Lower serum lipid levels are related to respiratory impairment in patients with ALS. Neurology 73: 1681-1685.
    • (2009) Neurology , vol.73 , pp. 1681-1685
    • Chiò, A.1    Calvo, A.2    Ilardi, A.3    Cavallo, E.4    Moglia, C.5
  • 46
    • 77953223693 scopus 로고    scopus 로고
    • Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
    • Gibbs JR, van der Brug MP, Hernandez DG, Traynor BJ, Nalls MA, et al. (2010) Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 6: e1000952.
    • (2010) PLoS Genet , vol.6
    • Gibbs, J.R.1    van der Brug, M.P.2    Hernandez, D.G.3    Traynor, B.J.4    Nalls, M.A.5
  • 47
    • 81355146748 scopus 로고    scopus 로고
    • The chromosome 9 ALS and FTD locus is probably derived from a single founder
    • 209.e3-209e8
    • Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, et al. (2012) The chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging 33: 209.e3-e8.
    • (2012) Neurobiol Aging , vol.33
    • Mok, K.1    Traynor, B.J.2    Schymick, J.3    Tienari, P.J.4    Laaksovirta, H.5
  • 48
    • 79959845010 scopus 로고    scopus 로고
    • Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats
    • Qurashi A, Li W, Zhou J-Y, Peng J, Jin P, (2011) Nuclear accumulation of stress response mRNAs contributes to the neurodegeneration caused by Fragile X premutation rCGG repeats. PLoS Genet 7: e1002102.
    • (2011) PLoS Genet , vol.7
    • Qurashi, A.1    Li, W.2    Zhou, J.-Y.3    Peng, J.4    Jin, P.5
  • 50
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: analysis and visualization of LD and haplotype maps
    • Barrett JC, Fry B, Maller J, Daly MJ, (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265.
    • (2005) Bioinformatics , vol.21 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4


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