Journal article

An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.

Derek W Morris, Richard D Pearson, Paul Cormican, Elaine M Kenny, Colm T O'Dushlaine, Louis-Philippe Lemieux Perreault, Eleni Giannoulatou, Daniela Tropea, Brion S Maher, Brandon Wormley, Eric Kelleher, Ciara Fahey, Ines Molinos, Stefania Bellini, Matti Pirinen, Amy Strange, Colin Freeman, Dawn L Thiselton, Rachel L Elves, Regina Regan Show all

Human Molecular Genetics | Published : 2014

Abstract

Identifying rare, highly penetrant risk mutations may be an important step in dissecting the 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 Consortium 2 (WTCCC2) schizophrenia sample of 1564 cases and 1748 controls all from Ireland, and further extended the analysis to include an additional 5196 UK controls. We found association with duplications at chr20p12.2 (P = 0.007) and evidence of replication in large independent European schizophrenia (P = 0.052) and UK bipolar disorder case-control cohorts (P = 0.047). A combined analysis of Irish/UK subjects including additional psychosi..

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