@article{3186513, title = "Gene expression imputation across multiple brain regions provides insights into schizophrenia risk", author = "Huckins, Laura M. and Dobbyn, Amanda and Ruderfer, Douglas M. and and Hoffman, Gabriel and Wang, Weiqing and Pardinas, Antonio F. and and Rajagopal, Veera M. and Als, Thomas D. and Nguyen, Hoang T. and Girdhar, and Kiran and Boocock, James and Roussos, Panos and Fromer, Menachem and and Kramer, Robin and Domenici, Enrico and Gamazon, Eric R. and Purcell, and Shaun and Demontis, Ditte and Borglum, Anders D. and Walters, James T. and R. and O'Donovan, Michael C. and Sullivan, Patrick and Owen, Michael J. and and Devlin, Bernie and Sieberts, Solveig K. and Cox, Nancy J. and Im, and Hae Kyung and Sklar, Pamela and Stahl, Eli A. and Johnson, Jessica S. and and Shah, Hardik R. and Klein, Lambertus L. and Dang, Kristen K. and and Logsdon, Benjamin A. and Mahajan, Milind C. and Mangravite, Lara M. and and Toyoshiba, Hiroyoshi and Gur, Raquel E. and Hahn, Chang-Gyu and Schadt, and Eric and Lewis, David A. and Haroutunian, Vahram and Peters, Mette A. and and Lipska, Barbara K. and Buxbaum, Joseph D. and Hirai, Keisuke and and Perumal, Thanneer M. and Essioux, Laurent and Rajagopal, Veera and Manikandan and Mattheisen, Manuel and Grove, Jakob and Werge, Thomas and and Mortensen, Preben Bo and Pedersen, Carsten Bocker and Agerbo, Esben and and Pedersen, Marianne Giortz and Mors, Ole and Nordentoft, Merete and and Hougaard, David M. and Bybjerg-Grauholm, Jonas and Baekvad-Hansen, Marie and and Hansen, Christine Soholm and Ripke, Stephan and Neale, Benjamin M. and and Corvin, Aiden and Farh, Kai-How and Holmans, Peter A. and Lee, Phil and and Bulik-Sullivan, Brendan and Collier, David A. and Huang, Hailiang and and Pers, Tune H. and Agartz, Ingrid and Albus, Margot and Alexander, and Madeline and Amin, Farooq and Bacanu, Silviu A. and Begemann, Martin and and Belliveau, Jr., Richard A. and Bene, Judit and Bergen, Sarah E. and and Bevilacqua, Elizabeth and Bigdeli, Tim B. and Black, Donald W. and and Bruggeman, Richard and Buccola, Nancy G. and Buckner, Randy L. and and Byerley, William and Cahn, Wiepke and Cai, Guiqing and Campion, and Dominique and Cantor, Rita M. and Carr, Vaughan J. and Carrera, Noa and and Catts, V, Stanley and Chambert, Kimberly D. and Chan, Raymond C. K. and and Chen, Ronald Y. L. and Chen, Eric Y. H. and Cheng, Wei and Cheung, Eric and F. C. and Chong, Siow Ann and Cloninger, C. Robert and Cohen, David and and Cohen, Nadine and Cormican, Paul and Craddock, Nick and Crowley, James and J. and Curtis, David and Davidson, Michael and Davis, Kenneth L. and and Degenhardt, Franziska and Del Favero, Jurgen and Dikeos, Dimitris and and Dinan, Timothy and Djurovic, Srdjan and Donohoe, Gary and Drapeau, and Elodie and Duan, Jubao and Dudbridge, Frank and Durmishi, Naser and and Eichhammer, Peter and Eriksson, Johan and Escott-Price, Valentina and and Essioux, Laurent and Fanous, Ayman H. and Farrell, Martilias S. and and Frank, Josef and Franke, Lude and Freedman, Robert and Freimer, Nelson and B. and Friedl, Marion and Friedman, I, Joseph and Fromer, Menachem and and Genovese, Giulio and Georgieva, Lyudmila and Giegling, Ina and and Giusti-Rodriguez, Paola and Godard, Stephanie and Goldstein, I, and Jacqueline and Golimbet, Vera and Gopal, Srihari and Gratten, Jacob and and de Haan, Lieuwe and Hammer, Christian and Hamshere, Marian L. and and Hansen, Mark and Hansen, Thomas and Haroutunian, Vahram and Hartmann, and Annette M. and Henskens, Frans A. and Herms, Stefan and Hirschhorn, Joel and N. and Hoffmann, Per and Hofman, Andrea and Hollegaard, V, Mads and and Ikeda, Masashi and Joa, Inge and Julia, Antonio and Kahn, Rene S. and and Kalaydjieva, Luba and Karachanak-Yankova, Sena and Karjalainen, Juha and and Kavanagh, David and Keller, Matthew C. and Kennedy, James L. and and Khrunin, Andrey and Kim, Yunjung and Klovins, Janis and Knowles, James and A. and Konte, Bettina and Kucinskas, Vaidutis and Kucinskiene, Zita and Ausrele and Kuzelova-Ptackova, Hana and Kahler, Anna K. and Laurent, and Claudine and Keong, Jimmy Lee Chee and Lee, S. Hong and Legge, Sophie E. and and Lerer, Bernard and Li, Miaoxin and Li, Tao and Liang, Kung-Yee and and Lieberman, Jeffrey and Limborska, Svetlana and Loughland, Carmel M. and and Lubinski, Jan and Lonnqvist, Jouko and Macek, Jr., Milan and Magnusson, and Patrik K. E. and Maher, Brion S. and Maier, Wolfgang and Mallet, Jacques and and Marsal, Sara and Mattingsdal, Morten and McCarley, Robert W. and and McDonald, Colm and McIntosh, Andrew M. and Meier, Sandra and Meijer, and Carin J. and Melegh, Bela and Melle, Ingrid and Mesholam-Gately, I, and Raquelle and Metspalu, Andres and Michie, Patricia T. and Milani, Lili and and Milanova, Vihra and Mokrab, Younes and Morris, Derek W. and Mors, and Ole and Murphy, Kieran C. and Murray, Robin M. and Myin-Germeys, Inez and and Muller-Myhsok, Bertram and Nelis, Mari and Nenadic, Igor and and Nertney, Deborah A. and Nestadt, Gerald and Nicodemus, Kristin K. and and Nikitina-Zake, Liene and Nisenbaum, Laura and Nordin, Annelie and and O'Callaghan, Eadbhard and O'Dushlaine, Colm and O'Neill, F. Anthony and and Oh, Sang-Yun and Olincy, Ann and Olsen, Line and Van Os, Jim and and Pantelis, Christos and Papadimitriou, George N. and Papiol, Sergi and and Parkhomenko, Elena and Pato, Michele T. and Paunio, Tiina and and Pejovic-Milovancevic, Milica and Perkins, Diana O. and Pietilainen, Olli and and Pimm, Jonathan and Pocklington, Andrew J. and Powell, John and and Price, Alkes and Pulver, Ann E. and Purcell, Shaun M. and Quested, Digby and and Rasmussen, Henrik B. and Reichenberg, Abraham and Reimers, Mark A. and and Richards, Alexander L. and Roffman, Joshua L. and Ruderfer, Douglas and M. and Salomaa, Veikko and Sanders, Alan R. and Schall, Ulrich and and Schubert, Christian R. and Schulze, Thomas G. and Schwab, Sibylle G. and and Scolnick, Edward M. and Scott, Rodney J. and Seidman, Larry J. and Shi, and Jianxin and Sigurdsson, Engilbert and Silagadze, Teimuraz and Silverman, and Jeremy M. and Sim, Kang and Slominsky, Petr and Smoller, Jordan W. and and So, Hon-Cheong and Spencer, Chris C. A. and Stefansson, Hreinn and and Steinberg, Stacy and Stogmann, Elisabeth and Straub, Richard E. and and Strengman, Eric and Strohmaier, Jana and Stroup, T. Scott and and Subramaniam, Mythily and Suvisaari, Jaana and Svrakic, Dragan M. and and Szatkiewicz, Jin P. and Soderman, Erik and Thirumalai, Srinivas and and Toncheva, Draga and Tosato, Sarah and Veijola, Juha and Waddington, John and and Walsh, Dermot and Wang, Dai and Wang, Qiang and Webb, Bradley T. and and Weiser, Mark and Wildenauer, Dieter B. and Williams, Nigel M. and and Williams, Stephanie and Witt, Stephanie H. and Wolen, Aaron R. and Wong, and Emily H. M. and Wormley, Brandon K. and Xi, Hualin Simon and Zai, and Clement C. and Zheng, Xuebin and Zimprich, Fritz and Wray, Naomi R. and and Stefansson, Kari and Visscher, Peter M. and Adolfsson, Rolf and and Andreassen, Ole A. and Blackwood, Douglas H. R. and Bramon, Elvira and and Buxbaum, Joseph D. and Borglum, Anders D. and Cichon, Sven and Darvasi, and Ariel and Domenici, Enrico and Ehrenreich, Hannelore and Esko, Tonu and and Gejman, V, Pablo and Gill, Michael and Gurling, Hugh and Hultman, and Christina M. and Iwata, Nakao and Jablensky, V, Assen and Jonsson, Erik and G. and Kendler, Kenneth S. and Kirov, George and Knight, Jo and Lencz, and Todd and Levinson, Douglas F. and Li, Qingqin S. and Liu, Jianjun and and Malhotra, Anil K. and McCarroll, Steven A. and McQuillin, Andrew and and Moran, Jennifer L. and Mortensen, Preben B. and Mowry, Bryan J. and and Nothen, Markus M. and Ophoff, Roel A. and Owen, Michael J. and Palotie, and Aarno and Pato, Carlos N. and Petryshen, Tracey L. and Posthuma, and Danielle and Rietschel, Marcella and Riley, Brien P. and Rujescu, Dan and and Sham, Pak C. and St Clair, David and Weinberger, Daniel R. and and Wendland, Jens R. and Werge, Thomas and Daly, Mark J. and Sullivan, and Patrick F. and CommonMind Consortium and Psychiat Genomics Consortium and and iPSYCH-GEMS Schizophrenia Working", journal = "Nature Genetics", year = "2019", volume = "51", number = "4", pages = "659+", publisher = "Lithuanian Nature Research Centre", issn = "1061-4036, 1546-1718", doi = "10.1038/s41588-019-0364-4", 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." }