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Volumn 20, Issue 10, 2012, Pages 1037-1043

De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems

Author keywords

ADHD; Attention Problem; copy number variation; twin

Indexed keywords

ARTICLE; ATTENTION DISTURBANCE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MONOZYGOTIC TWINS; PHENOTYPE; PRIORITY JOURNAL; TWIN CONCORDANCE; TWIN DISCORDANCE;

EID: 84866537913     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.49     Document Type: Article
Times cited : (42)

References (50)
  • 4
    • 34347349069 scopus 로고    scopus 로고
    • Genomic rearrangements and sporadic disease
    • DOI 10.1038/ng2084, PII NG2084
    • Lupski JR: Genomic rearrangements and sporadic disease. Nat Genet 2007; 39: S43-S47. (Pubitemid 47014475)
    • (2007) Nature Genetics , vol.39 , Issue.SUPPL. 1
    • Lupski, J.R.1
  • 5
    • 16844371343 scopus 로고    scopus 로고
    • Frequency of new copy number variation in humans
    • van Ommen GJB: Frequency of new copy number variation in humans. Nat Genet 2005; 37: 333-334.
    • (2005) Nat Genet , vol.37 , pp. 333-334
    • Van Ommen, G.J.B.1
  • 6
    • 26444577882 scopus 로고    scopus 로고
    • Copy number polymorphism and expression level variation of the human α-defensin genes DEFA1 and DEFA3
    • DOI 10.1093/hmg/ddi209
    • Aldred PMR, Hollox EJ, Armour JAL: Copy number polymorphism and expression level variation of the human-defensin genes DEFA1 and DEFA3. Hum Mol Genet 2005; 14: 2045-2052. (Pubitemid 41418040)
    • (2005) Human Molecular Genetics , vol.14 , Issue.14 , pp. 2045-2052
    • Aldred, P.M.R.1    Hollox, E.J.2    Armour, J.A.L.3
  • 7
    • 0042387792 scopus 로고    scopus 로고
    • Extensive normal copy number variation of a β-defensin antimicrobial-gene cluster
    • DOI 10.1086/378157
    • Hollox EJ, Armour JAL, Barber JCK: Extensive normal copy number variation of a [beta]-defensin antimicrobial-gene cluster. Am J Hum Genet 2003; 73: 591-600. (Pubitemid 37076271)
    • (2003) American Journal of Human Genetics , vol.73 , Issue.3 , pp. 591-600
    • Hollox, E.J.1    Armour, J.A.L.2    Barber, J.C.K.3
  • 8
    • 29144457296 scopus 로고    scopus 로고
    • Human defensin gene copy number polymorphisms: Comprehensive analysis of independent variation in α- and β-defensin regions at 8p22-p23
    • DOI 10.1016/j.ygeno.2005.06.003, PII S0888754305001576
    • Linzmeier RM, Ganz T: Human defensin gene copy number polymorphisms: Comprehensive analysis of independent variation in [alpha]-and [beta]-defensin regions at 8p22-p23. Genomics 2005; 86: 423-430. (Pubitemid 43293155)
    • (2005) Genomics , vol.86 , Issue.4 , pp. 423-430
    • Linzmeier, R.M.1    Ganz, T.2
  • 9
    • 29444457877 scopus 로고    scopus 로고
    • Common deletion polymorphisms in the human genome
    • McCarroll SA, Hadnott TN, Perry GH et al: Common deletion polymorphisms in the human genome. Nat Genet 2005; 38: 86-92.
    • (2005) Nat Genet , vol.38 , pp. 86-92
    • McCarroll, S.A.1    Hadnott, T.N.2    Perry, G.H.3
  • 11
    • 67649878596 scopus 로고    scopus 로고
    • The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
    • Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR: The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 2009; 41: 849-853.
    • (2009) Nat Genet , vol.41 , pp. 849-853
    • Zhang, F.1    Khajavi, M.2    Connolly, A.M.3    Towne, C.F.4    Batish, S.D.5    Lupski, J.R.6
  • 12
    • 52949141845 scopus 로고    scopus 로고
    • Integrated detection and population-genetic analysis of SNPs and copy number variation
    • McCarroll SA, Kuruvilla FG, Korn JM et al: Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008; 40: 1166-1174.
    • (2008) Nat Genet , vol.40 , pp. 1166-1174
    • McCarroll, S.A.1    Kuruvilla, F.G.2    Korn, J.M.3
  • 13
    • 54049144653 scopus 로고    scopus 로고
    • Copy-number variations associated with neuropsychiatric conditions
    • Cook Jr EH, Scherer SW: Copy-number variations associated with neuropsychiatric conditions. Nature 2008; 455: 919-923.
    • (2008) Nature , vol.455 , pp. 919-923
    • Cook Jr., E.H.1    Scherer, S.W.2
  • 14
    • 70449724778 scopus 로고    scopus 로고
    • Copy-number variants in neurodevelopmental disorders: Promises and challenges
    • Merikangas AK, Corvin AP, Gallagher L: Copy-number variants in neurodevelopmental disorders: promises and challenges. Trends Genet 2009; 25: 536-544.
    • (2009) Trends Genet , vol.25 , pp. 536-544
    • Merikangas, A.K.1    Corvin, A.P.2    Gallagher, L.3
  • 15
    • 79955899296 scopus 로고    scopus 로고
    • Copy number variants: A new molecular frontier in clinical psychiatry
    • Moreno-De-Luca D, Cubells JF: Copy number variants: a new molecular frontier in clinical psychiatry. Curr Psychiatry Rep 2011; 13: 129-137.
    • (2011) Curr Psychiatry Rep , vol.13 , pp. 129-137
    • Moreno-De-Luca, D.1    Cubells, J.F.2
  • 16
    • 78049303903 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: A genome-wide analysis
    • Williams NM, Zaharieva I, Martin A et al: Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. Lancet 2010; 376: 1401-1408.
    • (2010) Lancet , vol.376 , pp. 1401-1408
    • Williams, N.M.1    Zaharieva, I.2    Martin, A.3
  • 17
    • 32944477397 scopus 로고    scopus 로고
    • The relations between DISC-IV DSM diagnoses of ADHD and multi-informant CBCL-AP syndrome scores
    • DOI 10.1016/j.comppsych.2005.05.006, PII S0010440X05000775
    • Derks EM, Hudziak JJ, Dolan CV, Ferdinand RF, Boomsma DI: The relations between DISC-IV DSM diagnoses of ADHD and multi-informant CBCL-AP syndrome scores. Compr Psychiatry 2006; 47: 116-122. (Pubitemid 43259416)
    • (2006) Comprehensive Psychiatry , vol.47 , Issue.2 , pp. 116-122
    • Derks, E.M.1    Hudziak, J.J.2    Dolan, C.V.3    Ferdinand, R.F.4    Boomsma, D.I.5
  • 20
    • 38349112920 scopus 로고    scopus 로고
    • Genetic and environmental influences on the relation between attention problems and attention deficit hyperactivity disorder
    • Derks EM, Hudziak JJ, Dolan CV, van Beijsterveldt TCEM, Verhulst FC, Boomsma DI: Genetic and environmental influences on the relation between attention problems and attention deficit hyperactivity disorder. Behav Genet 2008; 38: 11-23.
    • (2008) Behav Genet , vol.38 , pp. 11-23
    • Derks, E.M.1    Hudziak, J.J.2    Dolan, C.V.3    Van Beijsterveldt, T.C.E.M.4    Verhulst, F.C.5    Boomsma, D.I.6
  • 21
    • 33947724401 scopus 로고    scopus 로고
    • A structural MRI study in monozygotic twins concordant or discordant for attention/hyperactivity problems: Evidence for genetic and environmental heterogeneity in the developing brain
    • DOI 10.1016/j.neuroimage.2007.01.037, PII S1053811907000936
    • van 't Ent D, Lehn H, Derks EM et al: A structural MRI study in monozygotic twins concordant or discordant for attention/hyperactivity problems: evidence for genetic and environmental heterogeneity in the developing brain. Neuroimage 2007; 35: 1004-1020. (Pubitemid 46507840)
    • (2007) NeuroImage , vol.35 , Issue.3 , pp. 1004-1020
    • Van Ent, D.1    Lehn, H.2    Derks, E.M.3    Hudziak, J.J.4    Van Strien, N.M.5    Veltman, D.J.6    De Geus, E.J.C.7    Todd, R.D.8    Boomsma, D.I.9
  • 22
    • 74049137220 scopus 로고    scopus 로고
    • Neuroimaging of response interference in twins concordant or discordant for inattention and hyperactivity symptoms
    • van 't Ent D, van Beijsterveldt CE, Derks EM et al: Neuroimaging of response interference in twins concordant or discordant for inattention and hyperactivity symptoms. Neuroscience 2009; 164: 16-29.
    • (2009) Neuroscience , vol.164 , pp. 16-29
    • Van'T Ent, D.1    Van Beijsterveldt, C.E.2    Derks, E.M.3
  • 24
    • 77957365024 scopus 로고    scopus 로고
    • Timing of de novo mutagenesis-a twin study of sodium-channel mutations
    • Vadlamudi L, Dibbens LM, Lawrence KM et al: Timing of de novo mutagenesis-a twin study of sodium-channel mutations. N Engl J Med 2010; 363: 1335-1340.
    • (2010) N Engl J Med , vol.363 , pp. 1335-1340
    • Vadlamudi, L.1    Dibbens, L.M.2    Lawrence, K.M.3
  • 25
    • 40849109768 scopus 로고    scopus 로고
    • Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles
    • Bruder CEG, Piotrowski A, Gijsbers AACJ et al: Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. Am J Hum Genet 2008; 82: 763-771.
    • (2008) Am J Hum Genet , vol.82 , pp. 763-771
    • Bruder, C.E.G.1    Piotrowski, A.2    Aacj, G.3
  • 26
    • 77958104373 scopus 로고    scopus 로고
    • Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia
    • Ono S, Imamura A, Tasaki S et al: Failure to Confirm CNVs as of Aetiological Significance in Twin Pairs Discordant for Schizophrenia. Twin Res Hum Genet 2010; 13: 455-460.
    • (2010) Twin Res Hum Genet , vol.13 , pp. 455-460
    • Ono, S.1    Imamura, A.2    Tasaki, S.3
  • 29
    • 77953719116 scopus 로고    scopus 로고
    • The Netherlands Twin Register Biobank: A resource for genetic epidemiological studies
    • Willemsen G, de Geus EJC, Bartels M et al: The Netherlands Twin Register Biobank: a resource for genetic epidemiological studies. Twin Res Hum Genet 2010; 13: 231-245.
    • (2010) Twin Res Hum Genet , vol.13 , pp. 231-245
    • Willemsen, G.1    De Geus, E.J.C.2    Bartels, M.3
  • 30
    • 52949085789 scopus 로고    scopus 로고
    • Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    • Korn JM, Kuruvilla FG, McCarroll SA et al: Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet 2008; 40: 1253-1260.
    • (2008) Nat Genet , vol.40 , pp. 1253-1260
    • Korn, J.M.1    Kuruvilla, F.G.2    McCarroll, S.A.3
  • 31
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D et al: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665.
    • (2007) Genome Res , vol.17 , pp. 1665
    • Wang, K.1    Li, M.2    Hadley, D.3
  • 33
    • 26444604507 scopus 로고    scopus 로고
    • A 4q35, 2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation
    • Pickard B, Hollox E, Malloy MP et al: A 4q35. 2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. BMC Med Genet 2004; 5: 21.
    • (2004) BMC Med Genet , vol.5 , pp. 21
    • Pickard, B.1    Hollox, E.2    Malloy, M.P.3
  • 34
    • 0027744223 scopus 로고
    • Tlenhoven EAEV et al: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
    • Deutekom JCTV, Wljmenga C: Tlenhoven EAEV et al: FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet 1993; 2: 2037.
    • (1993) Hum Mol Genet , vol.2 , pp. 2037
    • Jctv, D.1    Wljmenga, C.2
  • 35
    • 36749026295 scopus 로고    scopus 로고
    • DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1
    • Dixit M, Ansseau E, Tassin A et al: DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Proc Natl Acad Sci USA 2007; 104: 18157.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 18157
    • Dixit, M.1    Ansseau, E.2    Tassin, A.3
  • 37
    • 59749090025 scopus 로고    scopus 로고
    • Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays
    • Cukier HN, Pericak-Vance MA, Gilbert JR, Hedges DJ: Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays. Anal Biochem 2009; 386: 288-290.
    • (2009) Anal Biochem , vol.386 , pp. 288-290
    • Cukier, H.N.1    Pericak-Vance, M.A.2    Gilbert, J.R.3    Hedges, D.J.4
  • 39
    • 79551712779 scopus 로고    scopus 로고
    • Copy number variation characteristics in subpopulations of patients with autism spectrum disorders
    • Bremer A, Giacobini MB, Eriksson M et al: Copy number variation characteristics in subpopulations of patients with autism spectrum disorders. Am J Med Genet 2010; 156: 115-124.
    • (2010) Am J Med Genet , vol.156 , pp. 115-124
    • Bremer, A.1    Giacobini, M.B.2    Eriksson, M.3
  • 40
    • 77956352770 scopus 로고    scopus 로고
    • Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders
    • Cannon DS, Miller JS, Robison RJ et al: Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders. Mol Aut 2010; 1: 1-13.
    • (2010) Mol Aut , vol.1 , pp. 1-13
    • Cannon, D.S.1    Miller, J.S.2    Robison, R.J.3
  • 41
  • 42
    • 0033804701 scopus 로고    scopus 로고
    • Fatty acid metabolism in neurodevelopmental disorder: A new perspective on associations between attention-deficit/hyperactivity disorder, dyslexia, dyspraxia and the autistic spectrum
    • Richardson AJ, Ross M: Fatty acid metabolism in neurodevelopmental disorder: a new perspective on associations between attention-deficit/ hyperactivity disorder, dyslexia, dyspraxia and the autistic spectrum. Prostaglandins Leukot Essent Fatty Acids 2000; 63: 1-9.
    • (2000) Prostaglandins Leukot Essent Fatty Acids , vol.63 , pp. 1-9
    • Richardson, A.J.1    Ross, M.2
  • 43
    • 77954140531 scopus 로고    scopus 로고
    • Common SNPs explain a large proportion of the heritability for human height
    • Yang J, Benyamin B, McEvoy BP et al: Common SNPs explain a large proportion of the heritability for human height. Nat Genet 2010; 42: 565-569.
    • (2010) Nat Genet , vol.42 , pp. 565-569
    • Yang, J.1    Benyamin, B.2    McEvoy, B.P.3
  • 45
    • 0038731016 scopus 로고    scopus 로고
    • Genetics and genomics of behavioral and psychiatric disorders
    • DOI 10.1016/S0959-437X(03)00057-1
    • Inoue K, Lupski JR: Genetics and genomics of behavioral and psychiatric disorders. Curr Opin Genet Dev 2003; 13: 303-309. (Pubitemid 36645095)
    • (2003) Current Opinion in Genetics and Development , vol.13 , Issue.3 , pp. 303-309
    • Inoue, K.1    Lupski, J.R.2
  • 46
    • 33749043929 scopus 로고    scopus 로고
    • Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
    • DOI 10.1016/j.neuron.2006.09.027, PII S0896627306007343
    • Lee JA, Lupski JR: Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders. Neuron 2006; 52: 103-121. (Pubitemid 44466365)
    • (2006) Neuron , vol.52 , Issue.1 , pp. 103-121
    • Lee, J.A.1    Lupski, J.R.2
  • 47
    • 77649235168 scopus 로고    scopus 로고
    • Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution
    • Weaver S, Dube S, Mir A et al: Taking qPCR to a higher level: Analysis of CNV reveals the power of high throughput qPCR to enhance quantitative resolution. Methods 2010; 50: 271-276.
    • (2010) Methods , vol.50 , pp. 271-276
    • Weaver, S.1    Dube, S.2    Mir, A.3
  • 48
    • 79251545821 scopus 로고    scopus 로고
    • Accuracy of CNV Detection from GWAS Data
    • Zhang D, Qian Y, Akula N et al: Accuracy of CNV Detection from GWAS Data. PloS One 2011; 6: e14511.
    • (2011) PloS One , vol.6
    • Zhang, D.1    Qian, Y.2    Akula, N.3


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