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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. / Marshall, Christian R.; Howrigan, Daniel P.; Merico, Daniele; Thiruvahindrapuram, Bhooma; Wu, Wenting; Greer, Douglas S.; Antaki, Danny; Shetty, Aniket; Holmans, Peter A.; Pinto, Dalila; Gujral, Madhusudan; Brandler, William M.; Malhotra, Dheeraj; Wang, Zhouzhi; Fuentes Fajarado, Karin V.; Maile, Michelle S.; Ripke, Stephan; Agartz, Ingrid; Albus, Margot; Alexander, Madeline; Amin, Farooq; Atkins, Joshua; Bacanu, Silviu A.; Belliveau, Richard A.; Bergen, Sarah E.; Bertalan, Marcelo; Bevilacqua, Elizabeth; Bigdeli, Tim B.; Black, Donald W.; Bruggeman, Richard; Buccola, Nancy G.; Buckner, Randy L.; Bulik-Sullivan, Brendan; Byerley, William; Cahn, Wiepke; Cai, Guiqing; Cairns, Murray J.; Campion, Dominique; Cantor, Rita M.; Carr, Vaughan J.; Carrera, Noa; Catts, Stanley V.; Chambert, Kimberley D.; Cheng, Wei; Hansen, Mark; Hansen, Thomas; Olsen, Line; Pers, Tune H.; Rasmussen, Henrik B.; Werge, Thomas; Scherer, Stephen W.; Neale, Benjamin M; Sebat, Jonathan; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium.
I:
Nature Genetics, Bind 49, Nr. 1, 2017, s. 27-35.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Marshall, CR, Howrigan, DP, Merico, D, Thiruvahindrapuram, B, Wu, W, Greer, DS, Antaki, D, Shetty, A, Holmans, PA, Pinto, D, Gujral, M, Brandler, WM, Malhotra, D, Wang, Z, Fuentes Fajarado, KV, Maile, MS, Ripke, S, Agartz, I, Albus, M, Alexander, M, Amin, F, Atkins, J, Bacanu, SA, Belliveau, RA, Bergen, SE, Bertalan, M, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Bulik-Sullivan, B, Byerley, W, Cahn, W, Cai, G, Cairns, MJ, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Cheng, W, Hansen, M, Hansen, T, Olsen, L, Pers, TH, Rasmussen, HB
, Werge, T, Scherer, SW, Neale, BM, Sebat, J & CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium 2017, '
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects',
Nature Genetics, bind 49, nr. 1, s. 27-35.
https://doi.org/10.1038/ng.3725APA
Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., Gujral, M., Brandler, W. M., Malhotra, D., Wang, Z., Fuentes Fajarado, K. V., Maile, M. S., Ripke, S., Agartz, I., Albus, M., ... CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium (2017).
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Nature Genetics,
49(1), 27-35.
https://doi.org/10.1038/ng.3725Vancouver
Marshall CR, Howrigan DP, Merico D, Thiruvahindrapuram B, Wu W, Greer DS o.a.
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Nature Genetics. 2017;49(1):27-35.
https://doi.org/10.1038/ng.3725Author
Marshall, Christian R. ; Howrigan, Daniel P. ; Merico, Daniele ; Thiruvahindrapuram, Bhooma ; Wu, Wenting ; Greer, Douglas S. ; Antaki, Danny ; Shetty, Aniket ; Holmans, Peter A. ; Pinto, Dalila ; Gujral, Madhusudan ; Brandler, William M. ; Malhotra, Dheeraj ; Wang, Zhouzhi ; Fuentes Fajarado, Karin V. ; Maile, Michelle S. ; Ripke, Stephan ; Agartz, Ingrid ; Albus, Margot ; Alexander, Madeline ; Amin, Farooq ; Atkins, Joshua ; Bacanu, Silviu A. ; Belliveau, Richard A. ; Bergen, Sarah E. ; Bertalan, Marcelo ; Bevilacqua, Elizabeth ; Bigdeli, Tim B. ; Black, Donald W. ; Bruggeman, Richard ; Buccola, Nancy G. ; Buckner, Randy L. ; Bulik-Sullivan, Brendan ; Byerley, William ; Cahn, Wiepke ; Cai, Guiqing ; Cairns, Murray J. ; Campion, Dominique ; Cantor, Rita M. ; Carr, Vaughan J. ; Carrera, Noa ; Catts, Stanley V. ; Chambert, Kimberley D. ; Cheng, Wei ; Hansen, Mark ; Hansen, Thomas ; Olsen, Line ; Pers, Tune H. ; Rasmussen, Henrik B. ; Werge, Thomas ; Scherer, Stephen W. ; Neale, Benjamin M ; Sebat, Jonathan ; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. / Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. I: Nature Genetics. 2017 ; Bind 49, Nr. 1. s. 27-35.
Bibtex
@article{bac293b3341a414eb99108565852c280,
title = "Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects",
abstract = "Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.",
author = "Marshall, {Christian R.} and Howrigan, {Daniel P.} and Daniele Merico and Bhooma Thiruvahindrapuram and Wenting Wu and Greer, {Douglas S.} and Danny Antaki and Aniket Shetty and Holmans, {Peter A.} and Dalila Pinto and Madhusudan Gujral and Brandler, {William M.} and Dheeraj Malhotra and Zhouzhi Wang and {Fuentes Fajarado}, {Karin V.} and Maile, {Michelle S.} and Stephan Ripke and Ingrid Agartz and Margot Albus and Madeline Alexander and Farooq Amin and Joshua Atkins and Bacanu, {Silviu A.} and Belliveau, {Richard A.} and Bergen, {Sarah E.} and Marcelo Bertalan and Elizabeth Bevilacqua and Bigdeli, {Tim B.} and Black, {Donald W.} and Richard Bruggeman and Buccola, {Nancy G.} and Buckner, {Randy L.} and Brendan Bulik-Sullivan and William Byerley and Wiepke Cahn and Guiqing Cai and Cairns, {Murray J.} and Dominique Campion and Cantor, {Rita M.} and Carr, {Vaughan J.} and Noa Carrera and Catts, {Stanley V.} and Chambert, {Kimberley D.} and Wei Cheng and Mark Hansen and Thomas Hansen and Line Olsen and Pers, {Tune H.} and Rasmussen, {Henrik B.} and Thomas Werge and Scherer, {Stephen W.} and Neale, {Benjamin M} and Jonathan Sebat and {CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium}",
year = "2017",
doi = "10.1038/ng.3725",
language = "English",
volume = "49",
pages = "27--35",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "1",
}
RIS
TY - JOUR
T1 - Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
AU - Marshall, Christian R.
AU - Howrigan, Daniel P.
AU - Merico, Daniele
AU - Thiruvahindrapuram, Bhooma
AU - Wu, Wenting
AU - Greer, Douglas S.
AU - Antaki, Danny
AU - Shetty, Aniket
AU - Holmans, Peter A.
AU - Pinto, Dalila
AU - Gujral, Madhusudan
AU - Brandler, William M.
AU - Malhotra, Dheeraj
AU - Wang, Zhouzhi
AU - Fuentes Fajarado, Karin V.
AU - Maile, Michelle S.
AU - Ripke, Stephan
AU - Agartz, Ingrid
AU - Albus, Margot
AU - Alexander, Madeline
AU - Amin, Farooq
AU - Atkins, Joshua
AU - Bacanu, Silviu A.
AU - Belliveau, Richard A.
AU - Bergen, Sarah E.
AU - Bertalan, Marcelo
AU - Bevilacqua, Elizabeth
AU - Bigdeli, Tim B.
AU - Black, Donald W.
AU - Bruggeman, Richard
AU - Buccola, Nancy G.
AU - Buckner, Randy L.
AU - Bulik-Sullivan, Brendan
AU - Byerley, William
AU - Cahn, Wiepke
AU - Cai, Guiqing
AU - Cairns, Murray J.
AU - Campion, Dominique
AU - Cantor, Rita M.
AU - Carr, Vaughan J.
AU - Carrera, Noa
AU - Catts, Stanley V.
AU - Chambert, Kimberley D.
AU - Cheng, Wei
AU - Hansen, Mark
AU - Hansen, Thomas
AU - Olsen, Line
AU - Pers, Tune H.
AU - Rasmussen, Henrik B.
AU - Werge, Thomas
AU - Scherer, Stephen W.
AU - Neale, Benjamin M
AU - Sebat, Jonathan
AU - CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium
PY - 2017
Y1 - 2017
N2 - Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
AB - Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 × 10-15), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 × 10-6). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 × 10-11) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 × 10-5). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.
U2 - 10.1038/ng.3725
DO - 10.1038/ng.3725
M3 - Journal article
C2 - 27869829
AN - SCOPUS:84997770295
VL - 49
SP - 27
EP - 35
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 1
ER -
