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

CR Marshall; DP Howrigan; D Merico; B Thiruvahindrapuram; W Wu; DS Greer; D Antaki; A Shetty; PA Holmans; D Pinto; M Gujral; WM Brandler; D Malhotra; Z Wang; KV Fuentes Fajarado; MS Maile; S Ripke; I Agartz; M Albus; M Alexander; F Amin; J Atkins; SA Bacanu; RA Belliveau; SE Bergen; M Bertalan; E Bevilacqua; TB Bigdeli; DW Black; R Bruggeman; NG Buccola; RL Buckner; B Bulik-Sullivan; W Byerley; W Cahn; G Cai; MJ Cairns; D Campion; RM Cantor; VJ Carr; N Carrera; SV Catts; KD Chambert; W Cheng; CR Cloninger; D Cohen; P Cormican; N Craddock; B Crespo-Facorro; JJ Crowley; D Curtis; M Davidson; KL Davis; F Degenhardt; J Del Favero; LE DeLisi; D Dikeos; T Dinan; S Djurovic; G Donohoe; E Drapeau; J Duan; F Dudbridge; P Eichhammer; J Eriksson; V Escott-Price; L Essioux; AH Fanous; KH Farh; MS Farrell; J Frank; L Franke; R Freedman; NB Freimer; JI Friedman; AJ Forstner; M Fromer; G Genovese; L Georgieva; ES Gershon; I Giegling; P Giusti-Rodríguez; S Godard; JI Goldstein; J Gratten; L De Haan; ML Hamshere; M Hansen; T Hansen; V Haroutunian; AM Hartmann; FA Henskens; S Herms; JN Hirschhorn; P Hoffmann; A Hofman; H Huang; M Ikeda; I Joa; AK Kähler

Journal article

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

CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, DS Greer, D Antaki, A Shetty, PA Holmans, D Pinto, M Gujral, WM Brandler, D Malhotra, Z Wang, KV Fuentes Fajarado, MS Maile, S Ripke, I Agartz, M Albus, M Alexander Show all

Nature Genetics | NATURE PORTFOLIO | Published : 2017

DOI: 10.1038/ng.3725

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 = ..

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University of Melbourne Researchers

Christos Pantelis Author

Grants

Awarded by National Institute of Mental Health

Funding Acknowledgements

Core funding for the Psychiatric Genomics Consortium is from the US National Institute of Mental Health (NIMH, U01 MH094421). We thank T. Lehner, A. Addington and G. Senthil (NIMH). The work of the contributing groups was supported by numerous grants from governmental and charitable bodies as well as philanthropic donation. Details are provided in the Supplementary Note.