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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk.
Huckins, Laura M; Dobbyn, Amanda; Ruderfer, Douglas M; Hoffman, Gabriel; Wang, Weiqing; Pardiñas, Antonio F; Rajagopal, Veera M; Als, Thomas D; T Nguyen, Hoang; Girdhar, Kiran; Boocock, James; Roussos, Panos; Fromer, Menachem; Kramer, Robin; Domenici, Enrico; Gamazon, Eric R; Purcell, Shaun; Demontis, Ditte; Børglum, Anders D; Walters, James T R; O'Donovan, Michael C; Sullivan, Patrick; Owen, Michael J; Devlin, Bernie; Sieberts, Solveig K; Cox, Nancy J; Im, Hae Kyung; Sklar, Pamela; Stahl, Eli A.
Afiliación
  • Huckins LM; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.
  • Dobbyn A; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.
  • Ruderfer DM; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.
  • Hoffman G; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. laura.huckins@mssm.edu.
  • Wang W; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Pardiñas AF; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Rajagopal VM; Vanderbilt University Medical Center, Nashville, TN, USA.
  • Als TD; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • T Nguyen H; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Girdhar K; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Boocock J; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Roussos P; MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Cardiff, UK.
  • Fromer M; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
  • Kramer R; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
  • Domenici E; Center for Integrative Sequencing, Aarhus University, Aarhus, Denmark.
  • Gamazon ER; Department of Biomedicine, Aarhus University, Aarhus, Denmark.
  • Purcell S; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark.
  • Demontis D; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Børglum AD; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Walters JTR; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
  • O'Donovan MC; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Sullivan P; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Owen MJ; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Devlin B; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Sieberts SK; Pamela Sklar Division of Psychiatric Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Cox NJ; Department of Genetics and Genomics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Im HK; Human Brain Collection Core, National Institute of Mental Health, Bethesda, MD, USA.
  • Sklar P; Laboratory of Neurogenomic Biomarkers, Centre for Integrative Biology (CIBIO), University of Trento, Trento, Italy.
  • Stahl EA; Vanderbilt University Medical Center, Nashville, TN, USA.
Nat Genet ; 51(4): 659-674, 2019 04.
Article en En | MEDLINE | ID: mdl-30911161
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.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esquizofrenia / Encéfalo / Expresión Génica Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Esquizofrenia / Encéfalo / Expresión Génica Tipo de estudio: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
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