作者
Eduardo A Maury, Maxwell A Sherman, Giulio Genovese, Thomas G Gilgenast, Tushar Kamath, SJ Burris, Prashanth Rajarajan, Erin Flaherty, Schahram Akbarian, Andrew Chess, Steven A McCarroll, Po-Ru Loh, Jennifer E Phillips-Cremins, Kristen J Brennand, Evan Z Macosko, James TR Walters, Michael O’Donovan, Patrick Sullivan, Christian R Marshall, Daniele Merico, Bhooma Thiruvahindrapuram, Zhouzhi Wang, Stephen W Scherer, Daniel P Howrigan, Stephan Ripke, Brendan Bulik-Sullivan, Kai-How Farh, Menachem Fromer, Jacqueline I Goldstein, Hailiang Huang, Phil Lee, Mark J Daly, Benjamin M Neale, Richard A Belliveau, Sarah E Bergen, Elizabeth Bevilacqua, Kimberley D Chambert, Colm O'Dushlaine, Edward M Scolnick, Jordan W Smoller, Jennifer L Moran, Aarno Palotie, Tracey L Petryshen, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Madhusudan Gujral, William M Brandler, Dheeraj Malhotra, Karin V Fuentes Fajarado, Michelle S Maile, Peter A Holmans, Noa Carrera, Nick Craddock, Valentina Escott-Price, Lyudmila Georgieva, Marian L Hamshere, David Kavanagh, Sophie E Legge, Andrew J Pocklington, Alexander L Richards, Douglas M Ruderfer, Nigel M Williams, George Kirov, Michael J Owen, Dalila Pinto, Guiqing Cai, Kenneth L Davis, Elodie Drapeau, Joseph I Friedman, Vahram Haroutunian, Elena Parkhomenko, Abraham Reichenberg, Jeremy M Silverman, Joseph D Buxbaum, Enrico Domenici, Ingrid Agartz, Srdjan Djurovic, Morten Mattingsdal, Ingrid Melle, Ole A Andreassen, Erik G Jönsson, Erik Söderman, Margot Albus, Madeline Alexander, Claudine Laurent, Douglas F Levinson, Farooq Amin, Joshua Atkins, Murray J Cairns, Rodney J Scott, Paul A Tooney, Jing Qin Wu, Silviu A Bacanu, Tim B Bigdeli, Mark A Reimers, Bradley T Webb, Aaron R Wolen, Brandon K Wormley, Kenneth S Kendler, Brien P Riley, Anna K Kähler, Patrik KE Magnusson, Christina M Hultman, Marcelo Bertalan, Thomas Hansen, Line Olsen, Henrik B Rasmussen, Thomas Werge, Manuel Mattheisen, Donald W Black, Richard Bruggeman, Nancy G Buccola, Randy L Buckner, Joshua L Roffman, William Byerley, Wiepke Cahn, René S Kahn, Eric Strengman, Roel A Ophoff, Vaughan J Carr, Stanley V Catts, Frans A Henskens, Carmel M Loughland, Patricia T Michie, Christos Pantelis, Ulrich Schall, Assen V Jablensky, Brian J Kelly, Dominique Campion, Rita M Cantor, Wei Cheng, C Robert Cloninger, Dragan M Svrakic, David Cohen, Paul Cormican, Gary Donohoe, Derek W Morris, Aiden Corvin, Michael Gill, Benedicto Crespo-Facorro, James J Crowley, Martilias S Farrell, Paola Giusti-Rodríguez, Yunjung Kim, Jin P Szatkiewicz, Stephanie Williams, David Curtis, Jonathan Pimm
发表日期
2023/8/9
期刊
Cell genomics
卷号
3
期号
8
出版商
Elsevier
简介
While germline copy-number variants (CNVs) contribute to schizophrenia (SCZ) risk, the contribution of somatic CNVs (sCNVs)—present in some but not all cells—remains unknown. We identified sCNVs using blood-derived genotype arrays from 12,834 SCZ cases and 11,648 controls, filtering sCNVs at loci recurrently mutated in clonal blood disorders. Likely early-developmental sCNVs were more common in cases (0.91%) than controls (0.51%, p = 2.68e−4), with recurrent somatic deletions of exons 1–5 of the NRXN1 gene in five SCZ cases. Hi-C maps revealed ectopic, allele-specific loops forming between a potential cryptic promoter and non-coding cis-regulatory elements upon 5′ deletions in NRXN1. We also observed recurrent intragenic deletions of ABCB11, encoding a transporter implicated in anti-psychotic response, in five treatment-resistant SCZ cases and showed that ABCB11 is specifically enriched …
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EA Maury, MA Sherman, G Genovese, TG Gilgenast… - Cell genomics, 2023