@article{70bf85df876e4972a86c55b0cfc46b0e,
title = "Gene expression imputation across multiple brain regions provides insights into schizophrenia risk",
abstract = "Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.",
author = "{CommonMind Consortium} and {The Schizophrenia Working Group of the PsyUniversity of Copenhagenchiatric Genomics Consortium} and {iPSYCH-GEMS Schizophrenia Working Group} and Huckins, {Laura M.} and Amanda Dobbyn and Ruderfer, {Douglas M.} and Gabriel Hoffman and Weiqing Wang and Pardi{\~n}as, {Antonio F.} and Rajagopal, {Veera M.} and Als, {Thomas D.} and {T. Nguyen}, Hoang and Kiran Girdhar and James Boocock and Panos Roussos and Menachem Fromer and Robin Kramer and Enrico Domenici and Gamazon, {Eric R.} and Shaun Purcell and Johnson, {Jessica S.} and Shah, {Hardik R.} and Klein, {Lambertus L.} and Dang, {Kristen K.} and Logsdon, {Benjamin A.} and Mahajan, {Milind C.} and Mangravite, {Lara M.} and Hiroyoshi Toyoshiba and Gur, {Raquel E.} and Hahn, {Chang Gyu} and Eric Schadt and Lewis, {David A.} and Vahram Haroutunian and Peters, {Mette A.} and Lipska, {Barbara K.} and Buxbaum, {Joseph D.} and Keisuke Hirai and Perumal, {Thanneer M.} and Laurent Essioux and Stephan Ripke and Neale, {Benjamin M.} and Aiden Corvin and Walters, {James T.R.} and Farh, {Kai How} and Holmans, {Peter A.} and Phil Lee and Brendan Bulik-Sullivan and Collier, {David A.} and Hailiang Huang and Pers, {Tune H.} and Ingrid Agartz and Michael Davidson and Mark Weiser",
note = "Publisher Copyright: {\textcopyright} 2019, The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2019",
month = apr,
day = "1",
doi = "10.1038/s41588-019-0364-4",
language = "אנגלית",
volume = "51",
pages = "659--674",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",
}