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Volumn 82, Issue 2, 2017, Pages 103-110

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects

Author keywords

Affymetrix; CNV; Cognition; Neurodevelopmental; Schizophrenia; UK Biobank

Indexed keywords

ADULT; AGED; ARTICLE; BIOBANK; CONTROLLED STUDY; COPY NUMBER VARIATION; EDUCATIONAL STATUS; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL CAPACITY; MENTAL PERFORMANCE; NERVE CELL DIFFERENTIATION; PRIORITY JOURNAL; SCHIZOPHRENIA; UNITED KINGDOM; COGNITIVE DEFECT; GENETICS; MENTAL DISEASE; MIDDLE AGED; NEUROPSYCHOLOGICAL TEST; PATHOPHYSIOLOGY; STATISTICS AND NUMERICAL DATA;

EID: 85005947800     PISSN: 00063223     EISSN: 18732402     Source Type: Journal    
DOI: 10.1016/j.biopsych.2016.08.014     Document Type: Article
Times cited : (149)

References (32)
  • 1
    • 77952690350 scopus 로고    scopus 로고
    • The clinical context of copy number variation in the human genome
    • Lee, C., Scherer, S.W., The clinical context of copy number variation in the human genome. Expert Rev Mol Med, 12, 2010, e8.
    • (2010) Expert Rev Mol Med , vol.12 , pp. e8
    • Lee, C.1    Scherer, S.W.2
  • 2
    • 31144469134 scopus 로고    scopus 로고
    • Structural variation in the human genome
    • Feuk, L., Carson, A.R., Scherer, S.W., Structural variation in the human genome. Nat Rev Genet 7 (2006), 85–97.
    • (2006) Nat Rev Genet , vol.7 , pp. 85-97
    • Feuk, L.1    Carson, A.R.2    Scherer, S.W.3
  • 3
    • 0034513406 scopus 로고    scopus 로고
    • Molecular mechanisms for constitutional chromosomal rearrangements in humans
    • Shaffer, L.G., Lupski, J.R., Molecular mechanisms for constitutional chromosomal rearrangements in humans. Annu Rev Genet 34 (2000), 297–329.
    • (2000) Annu Rev Genet , vol.34 , pp. 297-329
    • Shaffer, L.G.1    Lupski, J.R.2
  • 4
    • 84922012902 scopus 로고    scopus 로고
    • Refining analyses of copy number variation identifies specific genes associated with developmental delay
    • Coe, B.P., Witherspoon, K., Rosenfeld, J.A., van Bon, B.W., Vulto-van Silfhout, A.T., Bosco, P., et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet 46 (2014), 1063–1071.
    • (2014) Nat Genet , vol.46 , pp. 1063-1071
    • Coe, B.P.1    Witherspoon, K.2    Rosenfeld, J.A.3    van Bon, B.W.4    Vulto-van Silfhout, A.T.5    Bosco, P.6
  • 5
    • 84883679009 scopus 로고    scopus 로고
    • NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
    • Dittwald, P., Gambin, T., Szafranski, P., Li, J., Amato, S., Divon, M.Y., et al. NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res 23 (2013), 1395–1409.
    • (2013) Genome Res , vol.23 , pp. 1395-1409
    • Dittwald, P.1    Gambin, T.2    Szafranski, P.3    Li, J.4    Amato, S.5    Divon, M.Y.6
  • 6
    • 84975810789 scopus 로고    scopus 로고
    • Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies
    • Lal, D., Ruppert, A.K., Trucks, H., Schulz, H., de Kovel, C.G., Kasteleijn-Nolst Trenitû̀, D., et al. Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. PLoS Genet, 11, 2015, e1005226.
    • (2015) PLoS Genet , vol.11 , pp. e1005226
    • Lal, D.1    Ruppert, A.K.2    Trucks, H.3    Schulz, H.4    de Kovel, C.G.5    Kasteleijn-Nolst Trenitû̀, D.6
  • 8
    • 84996720381 scopus 로고    scopus 로고
    • Analysis of intellectual disability copy number variants for association with schizophrenia
    • Rees, E., Kendall, K., Pardiñas, A., Legge, S., Pocklington, A., Escott-Price, A., et al. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73 (2016), 963–969.
    • (2016) JAMA Psychiatry , vol.73 , pp. 963-969
    • Rees, E.1    Kendall, K.2    Pardiñas, A.3    Legge, S.4    Pocklington, A.5    Escott-Price, A.6
  • 11
    • 84929880718 scopus 로고    scopus 로고
    • Copy number variations and cognitive phenotypes in unselected populations
    • MûÊnnik, K., MûÊgi, R., Macû̀, A., Cole, B., Guyatt, A.L., Shihab, H.A., et al. Copy number variations and cognitive phenotypes in unselected populations. JAMA 313 (2015), 2044–2054.
    • (2015) JAMA , vol.313 , pp. 2044-2054
    • MûÊnnik, K.1    MûÊgi, R.2    Macû̀, A.3    Cole, B.4    Guyatt, A.L.5    Shihab, H.A.6
  • 12
    • 84943428582 scopus 로고    scopus 로고
    • Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): A genetic association study in UK Biobank
    • Wain, L.V., Shrine, N., Miller, S., Jackson, V.E., Ntalla, I., Soler Artigas, M., et al. Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): A genetic association study in UK Biobank. Lancet Respir Med 3 (2015), 769–781.
    • (2015) Lancet Respir Med , vol.3 , pp. 769-781
    • Wain, L.V.1    Shrine, N.2    Miller, S.3    Jackson, V.E.4    Ntalla, I.5    Soler Artigas, M.6
  • 13
    • 84894375557 scopus 로고    scopus 로고
    • CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1
    • Rees, E., Walters, J.T., Chambert, K.D., O'Dushlaine, C., Szatkiewicz, J., Richards, A.L., et al. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet 23 (2014), 1669–1676.
    • (2014) Hum Mol Genet , vol.23 , pp. 1669-1676
    • Rees, E.1    Walters, J.T.2    Chambert, K.D.3    O'Dushlaine, C.4    Szatkiewicz, J.5    Richards, A.L.6
  • 14
    • 84856225986 scopus 로고    scopus 로고
    • De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
    • Kirov, G., Pocklington, A.J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry 17 (2012), 142–153.
    • (2012) Mol Psychiatry , vol.17 , pp. 142-153
    • Kirov, G.1    Pocklington, A.J.2    Holmans, P.3    Ivanov, D.4    Ikeda, M.5    Ruderfer, D.6
  • 16
    • 84897092542 scopus 로고    scopus 로고
    • Reduced burden of very large and rare CNVs in bipolar affective disorder
    • Grozeva, D., Kirov, G., Conrad, D.F., Barnes, C.P., Hurles, M., Owen, M.J., et al. Reduced burden of very large and rare CNVs in bipolar affective disorder. Bipolar Disord 15 (2013), 893–898.
    • (2013) Bipolar Disord , vol.15 , pp. 893-898
    • Grozeva, D.1    Kirov, G.2    Conrad, D.F.3    Barnes, C.P.4    Hurles, M.5    Owen, M.J.6
  • 17
    • 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., Liu, R., Glessner, J., Grant, S.F., et al. PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17 (2007), 1665–1674.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3    Liu, R.4    Glessner, J.5    Grant, S.F.6
  • 18
    • 79952710338 scopus 로고    scopus 로고
    • Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications
    • Levinson, D.F., Duan, J., Oh, S., Wang, K., Sanders, A.R., Shi, J., et al. Copy number variants in schizophrenia: Confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 168 (2011), 302–316.
    • (2011) Am J Psychiatry , vol.168 , pp. 302-316
    • Levinson, D.F.1    Duan, J.2    Oh, S.3    Wang, K.4    Sanders, A.R.5    Shi, J.6
  • 19
    • 51649107017 scopus 로고    scopus 로고
    • Rare chromosomal deletions and duplications increase risk of schizophrenia
    • International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 455 (2008), 237–241.
    • (2008) Nature , vol.455 , pp. 237-241
  • 20
    • 0001453917 scopus 로고    scopus 로고
    • Intelligence, training and employment
    • Wagner, R., Intelligence, training and employment. Am Psychologist 52 (1997), 1059–1069.
    • (1997) Am Psychologist , vol.52 , pp. 1059-1069
    • Wagner, R.1
  • 21
    • 0036273577 scopus 로고    scopus 로고
    • The role of general cognitive ability and job performance: Why there cannot be a debate
    • Schmidt, F., The role of general cognitive ability and job performance: Why there cannot be a debate. Hum Performance 15 (2002), 187–210.
    • (2002) Hum Performance , vol.15 , pp. 187-210
    • Schmidt, F.1
  • 22
    • 0003552458 scopus 로고    scopus 로고
    • Standard Occupational Classification 2000
    • The Stationery Office London
    • Office for National Statistics. Standard Occupational Classification 2000. 2000, The Stationery Office, London.
    • (2000)
  • 23
    • 84943740130 scopus 로고    scopus 로고
    • CNVs in neuropsychiatric disorders
    • Kirov, G., CNVs in neuropsychiatric disorders. Hum Mol Genet 24 (2015), R45–R49.
    • (2015) Hum Mol Genet , vol.24 , pp. R45-R49
    • Kirov, G.1
  • 24
    • 34547592375 scopus 로고    scopus 로고
    • Intelligence and socioeconomic success: A meta-analytic review of longitudinal research
    • Strenze, T., Intelligence and socioeconomic success: A meta-analytic review of longitudinal research. Intelligence 35 (2007), 401–426.
    • (2007) Intelligence , vol.35 , pp. 401-426
    • Strenze, T.1
  • 26
    • 55249091422 scopus 로고    scopus 로고
    • Schizophrenia: A concise overview of incidence, prevalence, and mortality
    • McGrath, J., Saha, S., Chant, D., Welham, J., Schizophrenia: A concise overview of incidence, prevalence, and mortality. Epidemiol Rev 30 (2008), 67–76.
    • (2008) Epidemiol Rev , vol.30 , pp. 67-76
    • McGrath, J.1    Saha, S.2    Chant, D.3    Welham, J.4
  • 27
    • 84859215798 scopus 로고    scopus 로고
    • What makes UK Biobank special?
    • Collins, R., What makes UK Biobank special?. Lancet 379 (2012), 1173–1174.
    • (2012) Lancet , vol.379 , pp. 1173-1174
    • Collins, R.1
  • 28
    • 78649440889 scopus 로고    scopus 로고
    • Enhancing the feasibility of large cohort studies
    • Manolio, T.A., Collins, R., Enhancing the feasibility of large cohort studies. JAMA 304 (2010), 2290–2291.
    • (2010) JAMA , vol.304 , pp. 2290-2291
    • Manolio, T.A.1    Collins, R.2
  • 30
    • 80053920983 scopus 로고    scopus 로고
    • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
    • Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R.G., Kutalik, Z., et al. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478 (2011), 97–102.
    • (2011) Nature , vol.478 , pp. 97-102
    • Jacquemont, S.1    Reymond, A.2    Zufferey, F.3    Harewood, L.4    Walters, R.G.5    Kutalik, Z.6
  • 31
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance, P.F., Abbas, N., Lensch, M.W., Pentao, L., Roa, B.B., Patel, P.I., et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 3 (1994), 223–228.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6
  • 32


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