Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Επιστημονική δημοσίευση - Άρθρο Περιοδικού uoadl:3172528 51 Αναγνώσεις

Μονάδα:
Ερευνητικό υλικό ΕΚΠΑ
Τίτλος:
Contribution of copy number variants to schizophrenia from a genome-wide
study of 41,321 subjects
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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 x 10(-15)), which persisted after excluding loci
implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden
was enriched for genes associated with synaptic function (OR = 1.68, P =
2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P =
7.3 x 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.
Έτος δημοσίευσης:
2017
Συγγραφείς:
Marshall, Christian R.
Howrigan, Daniel P.
Merico, Daniele and
Thiruvahindrapuram, Bhooma
Wu, Wenting
Greer, Douglas S. and
Antaki, Danny
Shetty, Aniket
Holmans, Peter A.
Pinto, Dalila
and Gujral, Madhusudan
Brandler, William M.
Malhotra, Dheeraj
and Wang, Zhouzhi
Fajarado, Karin V. Fuentes
Maile, Michelle S.
and Ripke, Stephan
Agartz, Ingrid
Albus, Margot
Alexander,
Madeline
Amin, Farooq
Atkins, Joshua
Bacanu, Silviu A. and
Belliveau, Jr., Richard A.
Bergen, Sarah E.
Ertalan, Marcelo and
Bevilacqua, Elizabeth
Bigdeli, Tim B.
Black, Donald W. and
Bruggeman, Richard
Buccola, Nancy G.
Buckner, Randy L. and
Bulik-Sullivan, Brendan
Byerley, William
Cahn, Wiepke
Cai,
Guiqing
Cairns, Murray J.
Campion, Dominique
Cantor, Rita M.
and Carr, Vaughan J.
Carrera, Noa
Catts, Stanley V. and
Chambert, Kimberley D.
Cheng, Wei
Cloninger, C. Robert and
Cohen, David
Cormican, Paul
Craddock, Nick
Crespo-Facorro,
Benedicto
Crowley, James J.
Curtis, David
Davidson, Michael
and Davis, Kenneth L.
Degenhardt, Franziska
Del Favero, Jurgen
and DeLisi, Lynn E.
Dikeos, Dimitris
Dinan, Timothy and
Djurovic, Srdjan
Donohoe, Gary
Drapeau, Elodie
Duan, Jubao
and Dudbridge, Frank
Eichhammer, Peter
Eriksson, Johan and
Escott-Price, Valentina
Essioux, Laurent
Fanous, Ayman H. and
Farh, Kai-How
Farrell, Martilias S.
Frank, Josef
Franke,
Lude
Freedman, Robert
Freimer, Nelson B.
Friedman, Joseph I.
and Forstner, Andreas J.
Fromer, Menachem
Genovese, Giulio and
Georgieva, Lyudmila
Gershon, Elliot S.
Giegling, Ina and
Giusti-Rodriguez, Paola
Godard, Stephanie
Goldstein, Jacqueline
I.
Gratten, Jacob
de Haan, Lieuwe
Hamshere, Marian L. and
Hansen, Mark
Hansen, Thomas
Haroutunian, Vahram
Hartmann,
Annette M.
Henskens, Frans A.
Herms, Stefan
Hirschhorn, Joel
N.
Hoffinann, Per
Hofman, Andrea
Huang, Hailiang
Ikeda,
Masashi
Joa, Inge
Kahler, Anna K.
Kahn, Rene S. and
Kalaydjieva, Luba
Karjalainen, Juha
Kavanagh, David
Keller,
Matthew C.
Kelly, Brian J.
Kennedy, James L.
Kim, Yunjung
and Knowles, James A.
Konte, Bettina
Laurent, Claudine
Lee,
Phil
Lee, S. Hong
Legge, Sophie E.
Lerer, Bernard
Levy,
Deborah L.
Liang, Kung-Yee
Lieberman, Jeffrey
Lonnqvist,
Jouko
Loughland, Carmel M.
Magnusson, Patrik K. E.
Maher,
Brion S.
Maier, Wolfgang
Mallet, Jacques
Mattheisen, Manuel
and Mattingsdal, Morten
McCarley, Robert W.
McDonald, Colm and
McIntosh, Andrew M.
Meier, Sandra
Meijer, Carin J.
Melle,
Ingrid
Mesholam-Gately, Raquelle I.
Metspalu, Andres
Michie,
Patricia T.
Milani, Lili
Milanova, Vihra
Mokrab, Younes and
Morris, Derek W.
Muller-Myhsok, Bertram
Murphy, Kieran C. and
Murray, Robin M.
Myin-Germeys, Inez
Nenadic, Igor
Nertney,
Deborah A.
Nestadt, Gerald
Nicodemus, Kristin K.
Nisenbaum,
Laura
Nordin, Annelie
O'Callaghan, Eadbhard
O'Dushlaine,
Colm
Oh, Sang-Yun
Olincy, Ann
Olsen, Line
O'Neill, F.
Anthony
Van Os, Jim
Pantelis, Christos
Papadimitriou, George
N.
Parkhomenko, Elena
Pato, Michele T.
Paunio, Tiina and
Perkins, Diana O.
Pers, Tune H.
Pietilainen, Olli
Pimm,
Jonathan
Pocklington, Andrew J.
Powell, John
Price, Alkes
and Pulver, Ann E.
Purcell, Shaun M.
Quested, Digby and
Rasmussen, Henrik B.
Reichenberg, Abraham
Reimers, Mark A. and
Richards, Alexander L.
Roffman, Joshua L.
Roussos, Panos and
Ruderfer, Douglas M.
Salomaa, Veikko
Sanders, Alan R. and
Savitz, Adam
Schall, Ulrich
Schulze, Thomas G.
Schwab,
Sibylle G.
Scolnick, Edward M.
Scott, Rodney J.
Seidman,
Larry J.
Shi, Jianxin
Silverman, Jeremy M.
Smoller, Jordan
W.
Soderman, Erik
Spencer, Chris C. A.
Stahl, Eli A. and
Strengman, Eric
Strohmaier, Jana
Stroup, T. Scott
Suvisaari,
Jaana
Svrakic, Dragan M.
Szatkiewicz, Jin P.
Thirumalai,
Srinivas
Tooney, Paul A.
Veijola, Juha
Visscher, Peter M.
and Waddington, John
Walsh, Dermot
Webb, Bradley T.
Weiser,
Mark
Wildenauer, Dieter B.
Williams, Nigel M.
Williams,
Stephanie
Witt, Stephanie H.
Wolen, Aaron R.
Wormley,
Brandon K.
Wray, Naomi R.
Wu, Jing Qin
Zai, Clement C. and
Adolfsson, Rolf
Andreassen, Ole A.
Blackwood, Douglas H. R. and
Bramon, Elvira
Buxbaum, Joseph D.
Cichon, Sven
Collier,
David A.
Corvin, Aiden
Daly, Mark J.
Darvasi, Ariel and
Domenici, Enrico
Esko, Tonu
Gejman, Pablo V.
Gill, Michael
and Gurling, Hugh
Hultman, Christina M.
Iwata, Nakao and
Jablensky, Assen V.
Jonsson, Erik G.
Kendler, Kenneth S. and
Kirov, George
Knight, Jo
Levinson, Douglas F.
Li, Qingqin S.
and McCarroll, Steven A.
McQuillin, Andrew
Moran, Jennifer L.
and Mowry, Bryan J.
Nothen, Markus M.
Ophoff, Roel A.
Owen,
Michael J.
Palotie, Aarno
Pato, Carlos N.
Petryshen, Tracey
L.
Posthuma, Danielle
Rietschel, Marcella
Riley, Brien P.
and Rujescu, Dan
Sklar, Pamela
St Clair, David
Walters,
James T. R.
Werge, Thomas
Siillivan, Patrick F.
O'Donovan,
Michael C.
Scherer, Stephen W.
Neale, Benjamin M.
Sebat,
Jonathan
CNV
Schizophrenia Working Grp
Psychosis
Endophenotypes
Περιοδικό:
Nature Genetics
Εκδότης:
Lithuanian Nature Research Centre
Τόμος:
49
Αριθμός / τεύχος:
1
Σελίδες:
27-35
Επίσημο URL (Εκδότης):
DOI:
10.1038/ng.3725
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