An inherited duplication at the gene p21 protein-activated Kinase 7 (PAK7) is a risk factor for psychosis

DW Morris; RD Pearson; P Cormican; EM Kenny; CT O'Dushlaine; LPL Perreault; E Giannoulatou; D Tropea; BS Maher; B Wormley; E Kelleher; C Fahey; I Molinos; S Bellini; M Pirinen; A Strange; C Freeman; DL Thiselton; RL Elves; R Regan; S Ennis; TG Dinan; C McDonald; KC Murphy; E O'Callaghan; JL Waddington; D Walsh; M O'Donovan; D Grozeva; N Craddock; J Stone; E Scolnick; S Purcell; P Sklar; B Coe; EE Eichler; R Ophoff; J Buizer; J Szatkiewicz; C Hultman; P Sullivan; H Gurling; A Mcquillin; D St Clair; E Rees; G Kirov; J Walters; D Blackwood; M Johnstone; G Donohoe; FA OwNeill; KS Kendler; M Gill; BP Riley; CCA Spencer; A Corvin

Journal article

An inherited duplication at the gene p21 protein-activated Kinase 7 (PAK7) is a risk factor for psychosis

DW Morris, RD Pearson, P Cormican, EM Kenny, CT O'Dushlaine, LPL Perreault, E Giannoulatou, D Tropea, BS Maher, B Wormley, E Kelleher, C Fahey, I Molinos, S Bellini, M Pirinen, A Strange, C Freeman, DL Thiselton, RL Elves, R Regan Show all

Human Molecular Genetics | Published : 2014

DOI: 10.1093/hmg/ddu025

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Abstract

Identifying rare, highly penetrant risk mutationsmay be an important step in dissectingthe molecular etiology of schizophrenia.We conducted a gene-based analysis of large (>100 kb), rare copy-number variants (CNVs) in the Wellcome Trust Case Control Consortium2 (WTCCC2)schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls.Wefound association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P 5 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosis cases..

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