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Volumn 31, Issue 3, 2017, Pages 573-579

A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1

(29)  Vijayakrishnan, J a   Kumar, R b   Henrion, M Y R a   Moorman, A V c   Rachakonda, P S b   Hosen, I b   Da Silva Filho, M I b   Holroyd, A a   Dobbins, S E a   Koehler, R d   Thomsen, H b   Irving, J A c   Allan, J M c   Lightfoot, T e   Roman, E e   Kinsey, S E f   Sheridan, E g   Thompson, P D h   Hoffmann, P i,j   Nothen M M i   more..


Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN DEPENDENT KINASE INHIBITOR 2A;

EID: 84994700875     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2016.271     Document Type: Article
Times cited : (68)

References (56)
  • 1
    • 0030457758 scopus 로고    scopus 로고
    • Geographic and ethnic variations in the incidence of childhood cancer
    • Stiller CA, Parkin DM. Geographic and ethnic variations in the incidence of childhood cancer. Br Med Bull 1996; 52: 682-703.
    • (1996) Br Med Bull , vol.52 , pp. 682-703
    • Stiller, C.A.1    Parkin, D.M.2
  • 2
    • 33644545382 scopus 로고    scopus 로고
    • Infection, immune responses and the aetiology of childhood leukaemia
    • Greaves M. Infection, immune responses and the aetiology of childhood leukaemia. Nat Rev Cancer 2006; 6: 193-203.
    • (2006) Nat Rev Cancer , vol.6 , pp. 193-203
    • Greaves, M.1
  • 3
    • 84865787223 scopus 로고    scopus 로고
    • Infectious illness in children subsequently diagnosed with acute lymphoblastic leukemia: Modeling the trends from birth to diagnosis
    • Crouch S, Lightfoot T, Simpson J, Smith A, Ansell P, Roman E. Infectious illness in children subsequently diagnosed with acute lymphoblastic leukemia: modeling the trends from birth to diagnosis. Am J Epidemiol 2012; 176: 402-408.
    • (2012) Am J Epidemiol , vol.176 , pp. 402-408
    • Crouch, S.1    Lightfoot, T.2    Simpson, J.3    Smith, A.4    Ansell, P.5    Roman, E.6
  • 4
    • 84869086592 scopus 로고    scopus 로고
    • Familial risks for childhood acute lymphocytic leukaemia in Sweden and Finland: Far exceeding the effects of known germline variants
    • Kharazmi E, da Silva Filho MI, Pukkala E, Sundquist K, Thomsen H, Hemminki K. Familial risks for childhood acute lymphocytic leukaemia in Sweden and Finland: far exceeding the effects of known germline variants. Br J Haematol 2012; 159: 585-588.
    • (2012) Br J Haematol , vol.159 , pp. 585-588
    • Kharazmi, E.1    Da Silva Filho, M.I.2    Pukkala, E.3    Sundquist, K.4    Thomsen, H.5    Hemminki, K.6
  • 6
    • 84891671233 scopus 로고    scopus 로고
    • Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype
    • Migliorini G, Fiege B, Hosking FJ, Ma Y, Kumar R, Sherborne AL, et al. Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. Blood 2013; 122: 3298-3307.
    • (2013) Blood , vol.122 , pp. 3298-3307
    • Migliorini, G.1    Fiege, B.2    Hosking, F.J.3    Ma, Y.4    Kumar, R.5    Sherborne, A.L.6
  • 7
    • 69349101565 scopus 로고    scopus 로고
    • Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
    • Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 2009; 41: 1006-1010.
    • (2009) Nat Genet , vol.41 , pp. 1006-1010
    • Papaemmanuil, E.1    Hosking, F.J.2    Vijayakrishnan, J.3    Price, A.4    Olver, B.5    Sheridan, E.6
  • 8
    • 84944706694 scopus 로고    scopus 로고
    • The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A
    • Vijayakrishnan J, Henrion M, Moorman AV, Fiege B, Kumar R, da Silva Filho MI, et al. The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A. Sci Rep 2015; 5: 15065.
    • (2015) Sci Rep , vol.5 , pp. 15065
    • Vijayakrishnan, J.1    Henrion, M.2    Moorman, A.V.3    Fiege, B.4    Kumar, R.5    Da Silva Filho, M.I.6
  • 9
    • 79960005268 scopus 로고    scopus 로고
    • Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia
    • Sherborne AL, Hemminki K, Kumar R, Bartram CR, Stanulla M, Schrappe M, et al. Rationale for an international consortium to study inherited genetic susceptibility to childhood acute lymphoblastic leukemia. Haematologica 2011; 96: 1049-1054.
    • (2011) Haematologica , vol.96 , pp. 1049-1054
    • Sherborne, A.L.1    Hemminki, K.2    Kumar, R.3    Bartram, C.R.4    Stanulla, M.5    Schrappe, M.6
  • 10
    • 84867401980 scopus 로고    scopus 로고
    • Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia
    • Enciso-Mora V, Hosking FJ, Sheridan E, Kinsey SE, Lightfoot T, Roman E, et al. Common genetic variation contributes significantly to the risk of childhood B-cell precursor acute lymphoblastic leukemia. Leukemia 2012; 26: 2212-2215.
    • (2012) Leukemia , vol.26 , pp. 2212-2215
    • Enciso-Mora, V.1    Hosking, F.J.2    Sheridan, E.3    Kinsey, S.E.4    Lightfoot, T.5    Roman, E.6
  • 11
    • 34547622688 scopus 로고    scopus 로고
    • Imputation-based analysis of association studies: Candidate regions and quantitative traits
    • Servin B, Stephens M. Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet 2007; 3: e114.
    • (2007) PLoS Genet , vol.3 , pp. e114
    • Servin, B.1    Stephens, M.2
  • 12
    • 84941702459 scopus 로고    scopus 로고
    • Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
    • Huang J, Howie B, McCarthy S, Memari Y, Walter K, Min JL, et al. Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun 2015; 6: 8111.
    • (2015) Nat Commun , vol.6 , pp. 8111
    • Huang, J.1    Howie, B.2    McCarthy, S.3    Memari, Y.4    Walter, K.5    Min, J.L.6
  • 13
    • 84943182742 scopus 로고    scopus 로고
    • The UK10K project identifies rare variants in health and disease
    • Consortium UK10K
    • Consortium UK10K, Walter K, Min JL, Huang J, Crooks L, Memari Y, et al. The UK10K project identifies rare variants in health and disease. Nature 2015; 526: 82-90.
    • (2015) Nature , vol.526 , pp. 82-90
    • Walter, K.1    Min, J.L.2    Huang, J.3    Crooks, L.4    Memari, Y.5
  • 14
    • 0034008918 scopus 로고    scopus 로고
    • Benefit of intensified treatment for all children with acute lymphoblastic leukaemia: Results from MRC UKALL XI and MRC ALL97 randomised trials
    • UK Medical Research Council's Working Party on Childhood Leukaemia
    • Hann I, Vora A, Richards S, Hill F, Gibson B, Lilleyman J, et al. Benefit of intensified treatment for all children with acute lymphoblastic leukaemia: results from MRC UKALL XI and MRC ALL97 randomised trials. UK Medical Research Council's Working Party on Childhood Leukaemia. Leukemia 2000; 14: 356-363.
    • (2000) Leukemia , vol.14 , pp. 356-363
    • Hann, I.1    Vora, A.2    Richards, S.3    Hill, F.4    Gibson, B.5    Lilleyman, J.6
  • 15
    • 84875273960 scopus 로고    scopus 로고
    • Treatment reduction for children and young adults with low-risk acute lymphoblastic leukaemia defined by minimal residual disease (UKALL 2003): A randomised controlled trial
    • Vora A, Goulden N, Wade R, Mitchell C, Hancock J, Hough R, et al. Treatment reduction for children and young adults with low-risk acute lymphoblastic leukaemia defined by minimal residual disease (UKALL 2003): a randomised controlled trial. Lancet Oncol 2013; 14: 199-209.
    • (2013) Lancet Oncol , vol.14 , pp. 199-209
    • Vora, A.1    Goulden, N.2    Wade, R.3    Mitchell, C.4    Hancock, J.5    Hough, R.6
  • 18
    • 77951441599 scopus 로고    scopus 로고
    • Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: Results in 3184 patients of the AIEOP-BFM ALL 2000 study
    • Conter V, Bartram CR, Valsecchi MG, Schrauder A, Panzer-Grumayer R, Moricke A, et al. Molecular response to treatment redefines all prognostic factors in children and adolescents with B-cell precursor acute lymphoblastic leukemia: results in 3184 patients of the AIEOP-BFM ALL 2000 study. Blood 2010; 115: 3206-3214.
    • (2010) Blood , vol.115 , pp. 3206-3214
    • Conter, V.1    Bartram, C.R.2    Valsecchi, M.G.3    Schrauder, A.4    Panzer-Grumayer, R.5    Moricke, A.6
  • 19
  • 20
    • 77951751034 scopus 로고    scopus 로고
    • Meta-analysis and imputation refines the association of 15q25 with smoking quantity
    • Liu JZ, Tozzi F, Waterworth DM, Pillai SG, Muglia P, Middleton L, et al. Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet 2010; 42: 436-440.
    • (2010) Nat Genet , vol.42 , pp. 436-440
    • Liu, J.Z.1    Tozzi, F.2    Waterworth, D.M.3    Pillai, S.G.4    Muglia, P.5    Middleton, L.6
  • 21
    • 34347344976 scopus 로고    scopus 로고
    • A new multipoint method for genome-wide association studies by imputation of genotypes
    • Marchini J, Howie B, Myers S, McVean G, Donnelly P. A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39: 906-913.
    • (2007) Nat Genet , vol.39 , pp. 906-913
    • Marchini, J.1    Howie, B.2    Myers, S.3    McVean, G.4    Donnelly, P.5
  • 22
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P, Marchini J. A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 2009; 5: e1000529.
    • (2009) PLoS Genet , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 23
    • 84856478855 scopus 로고    scopus 로고
    • A linear complexity phasing method for thousands of genomes
    • Delaneau O, Marchini J, Zagury JF. A linear complexity phasing method for thousands of genomes. Nat Methods 2012; 9: 179-181.
    • (2012) Nat Methods , vol.9 , pp. 179-181
    • Delaneau, O.1    Marchini, J.2    Zagury, J.F.3
  • 24
  • 25
    • 33846006923 scopus 로고    scopus 로고
    • Population structure and eigenanalysis
    • Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet 2006; 2: e190.
    • (2006) PLoS Genet , vol.2 , pp. e190
    • Patterson, N.1    Price, A.L.2    Reich, D.3
  • 27
    • 0037098199 scopus 로고    scopus 로고
    • Quantifying heterogeneity in a meta-analysis
    • Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med 2002; 21: 1539-1558.
    • (2002) Stat Med , vol.21 , pp. 1539-1558
    • Higgins, J.P.1    Thompson, S.G.2
  • 28
    • 26844482093 scopus 로고    scopus 로고
    • A fine-scale map of recombination rates and hotspots across the human genome
    • Myers S, Bottolo L, Freeman C, McVean G, Donnelly P. A fine-scale map of recombination rates and hotspots across the human genome. Science 2005; 310: 321-324.
    • (2005) Science , vol.310 , pp. 321-324
    • Myers, S.1    Bottolo, L.2    Freeman, C.3    McVean, G.4    Donnelly, P.5
  • 30
    • 84878732125 scopus 로고    scopus 로고
    • ENCODE Project Consortium An integrated encyclopedia of DNA elements in the human genome
    • ENCODE Project Consortium An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489: 57-74.
    • (2012) Nature , vol.489 , pp. 57-74
  • 31
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: A resource for exploring chromatin states, conservation, regulatory motif alterations within sets of genetically linked variants
    • (Database issue)
    • Ward LD, Kellis M. HaploReg: a resource for exploring chromatin states, conservation, regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Res 2012; 40(Database issue): D930-D934.
    • (2012) Nucleic Acids Res , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2
  • 34
    • 22244452677 scopus 로고    scopus 로고
    • Distribution and intensity of constraint in mammalian genomic sequence
    • Cooper GM, Stone EA, Asimenos G, NISC Comparartive Sequencing Program, Green ED, Batzoglou S, et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 2005; 15: 901-913.
    • (2005) Genome Res , vol.15 , pp. 901-913
    • Cooper, G.M.1    Stone, E.A.2    Asimenos, G.3
  • 35
    • 84895858942 scopus 로고    scopus 로고
    • A general framework for estimating the relative pathogenicity of human genetic variants
    • Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 2014; 46: 310-315.
    • (2014) Nat Genet , vol.46 , pp. 310-315
    • Kircher, M.1    Witten, D.M.2    Jain, P.3    O'Roak, B.J.4    Cooper, G.M.5    Shendure, J.6
  • 38
    • 79952256739 scopus 로고    scopus 로고
    • The architecture of gene regulatory variation across multiple human tissues: The MuTHER study
    • Nica AC, Parts L, Glass D, Nisbet J, Barrett A, Sekowska M, et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 2011; 7: e1002003.
    • (2011) PLoS Genet , vol.7 , pp. e1002003
    • Nica, A.C.1    Parts, L.2    Glass, D.3    Nisbet, J.4    Barrett, A.5    Sekowska, M.6
  • 39
    • 84885018609 scopus 로고    scopus 로고
    • Systematic identification of trans eQTLs as putative drivers of known disease associations
    • Westra H-J, Peters MJ, Esko T, Yaghootkar H, Schurmann C, Kettunen J, et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat Genet 2013; 45: 1238-1243.
    • (2013) Nat Genet , vol.45 , pp. 1238-1243
    • Westra, H.-J.1    Peters, M.J.2    Esko, T.3    Yaghootkar, H.4    Schurmann, C.5    Kettunen, J.6
  • 40
    • 59449093453 scopus 로고    scopus 로고
    • A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, association with specific cytogenetic subgroups
    • Sulong S, Moorman AV, Irving JA, Strefford JC, Konn ZJ, Case MC, et al. A comprehensive analysis of the CDKN2A gene in childhood acute lymphoblastic leukemia reveals genomic deletion, copy number neutral loss of heterozygosity, association with specific cytogenetic subgroups. Blood 2009; 113: 100-107.
    • (2009) Blood , vol.113 , pp. 100-107
    • Sulong, S.1    Moorman, A.V.2    Irving, J.A.3    Strefford, J.C.4    Konn, Z.J.5    Case, M.C.6
  • 41
    • 84879593764 scopus 로고    scopus 로고
    • Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: Association with cytogenetics and clinical features
    • Schwab CJ, Chilton L, Morrison H, Jones L, Al-Shehhi H, Erhorn A, et al. Genes commonly deleted in childhood B-cell precursor acute lymphoblastic leukemia: association with cytogenetics and clinical features. Haematologica 2013; 98: 1081-1088.
    • (2013) Haematologica , vol.98 , pp. 1081-1088
    • Schwab, C.J.1    Chilton, L.2    Morrison, H.3    Jones, L.4    Al-Shehhi, H.5    Erhorn, A.6
  • 42
    • 33845382806 scopus 로고
    • Nonparametric estimation from incomplete observations
    • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958; 53: 457-481.
    • (1958) J Am Stat Assoc , vol.53 , pp. 457-481
    • Kaplan, E.L.1    Meier, P.2
  • 43
    • 0013886333 scopus 로고
    • Evaluation of survival data and two new rank order statistics arising in its consideration
    • Mantel N. Evaluation of survival data and two new rank order statistics arising in its consideration. Cancer Chemother Rep 1966; 50: 163-170.
    • (1966) Cancer Chemother Rep , vol.50 , pp. 163-170
    • Mantel, N.1
  • 45
    • 0000120995 scopus 로고
    • A class of K-sample tests for comparing the cumulative incidence of a competing risk
    • Gray RJ. A class of K-sample tests for comparing the cumulative incidence of a competing risk. Ann Stat 1988; 19: 1141-1154.
    • (1988) Ann Stat , vol.19 , pp. 1141-1154
    • Gray, R.J.1
  • 48
    • 84958225502 scopus 로고    scopus 로고
    • A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology
    • Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, et al. A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nat Commun 2016; 7: 10635.
    • (2016) Nat Commun , vol.7 , pp. 10635
    • Hungate, E.A.1    Vora, S.R.2    Gamazon, E.R.3    Moriyama, T.4    Best, T.5    Hulur, I.6
  • 49
    • 84933060281 scopus 로고    scopus 로고
    • Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children
    • Xu H, Zhang H, Yang W, Yadav R, Morrison AC, Qian M, et al. Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children. Nat Commun 2015; 6: 7553.
    • (2015) Nat Commun , vol.6 , pp. 7553
    • Xu, H.1    Zhang, H.2    Yang, W.3    Yadav, R.4    Morrison, A.C.5    Qian, M.6
  • 50
    • 84955275619 scopus 로고    scopus 로고
    • A heritable missense polymorphism in CDKN2A confers strong risk of childhood acute lymphoblastic leukemia and is preferentially selected during clonal evolution
    • Walsh KM, de Smith AJ, Hansen HM, Smirnov IV, Gonseth S, Endicott AA, et al. A heritable missense polymorphism in CDKN2A confers strong risk of childhood acute lymphoblastic leukemia and is preferentially selected during clonal evolution. Cancer Res 2015; 75: 4884-4894.
    • (2015) Cancer Res , vol.75 , pp. 4884-4894
    • Walsh, K.M.1    De Smith, A.J.2    Hansen, H.M.3    Smirnov, I.V.4    Gonseth, S.5    Endicott, A.A.6
  • 51
    • 79851468862 scopus 로고    scopus 로고
    • Synthetic associations are unlikely to account for many common disease genome-wide association signals
    • Anderson CA, Soranzo N, Zeggini E, Barrett JC. Synthetic associations are unlikely to account for many common disease genome-wide association signals. PLoS Biol 2011; 9: e1000580.
    • (2011) PLoS Biol , vol.9 , pp. e1000580
    • Anderson, C.A.1    Soranzo, N.2    Zeggini, E.3    Barrett, J.C.4
  • 52
    • 79851487367 scopus 로고    scopus 로고
    • Synthetic associations created by rare variants do not explain most GWAS results
    • Wray NR, Purcell SM, Visscher PM. Synthetic associations created by rare variants do not explain most GWAS results. PLoS Biol 2011; 9: e1000579.
    • (2011) PLoS Biol , vol.9 , pp. e1000579
    • Wray, N.R.1    Purcell, S.M.2    Visscher, P.M.3
  • 53
    • 0028345890 scopus 로고
    • ERP, a new member of the ets transcription factor/oncoprotein family: Cloning, characterization, differential expression during B-lymphocyte development
    • Lopez M, Oettgen P, Akbarali Y, Dendorfer U, Libermann TA. ERP, a new member of the ets transcription factor/oncoprotein family: cloning, characterization, differential expression during B-lymphocyte development. Mol Cell Biol 1994; 14: 3292-3309.
    • (1994) Mol Cell Biol , vol.14 , pp. 3292-3309
    • Lopez, M.1    Oettgen, P.2    Akbarali, Y.3    Dendorfer, U.4    Libermann, T.A.5
  • 54
    • 84859209595 scopus 로고    scopus 로고
    • The clinical relevance of chromosomal and genomic abnormalities in B-cell precursor acute lymphoblastic leukaemia
    • Moorman AV. The clinical relevance of chromosomal and genomic abnormalities in B-cell precursor acute lymphoblastic leukaemia. Blood Rev 2012; 26: 123-135.
    • (2012) Blood Rev , vol.26 , pp. 123-135
    • Moorman, A.V.1
  • 55
    • 0037971250 scopus 로고    scopus 로고
    • Molecular cloning of a cDNA for the human phospholysine phosphohistidine inorganic pyrophosphate phosphatase
    • Yokoi F, Hiraishi H, Izuhara K. Molecular cloning of a cDNA for the human phospholysine phosphohistidine inorganic pyrophosphate phosphatase. J Biochem 2003; 133: 607-614.
    • (2003) J Biochem , vol.133 , pp. 607-614
    • Yokoi, F.1    Hiraishi, H.2    Izuhara, K.3
  • 56
    • 84923324232 scopus 로고    scopus 로고
    • VisPIG-A Web Tool for Producing Multi-Region, Multi-Track, Multi-Scale plots of genetic data
    • Scales M, Jager R, Migliorini G, Houlston RS, Henrion MYR. visPIG-A Web Tool for Producing Multi-Region, Multi-Track, Multi-Scale Plots of Genetic Data. PLoS ONE 2014; 9: e107497.
    • (2014) PLoS ONE , vol.9 , pp. e107497
    • Scales, M.1    Jager, R.2    Migliorini, G.3    Houlston, R.S.4    Henrion, M.Y.R.5


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