Your browser doesn't support javascript.
loading
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Ganna, Andrea; Genovese, Giulio; Howrigan, Daniel P; Byrnes, Andrea; Kurki, Mitja; Zekavat, Seyedeh M; Whelan, Christopher W; Kals, Mart; Nivard, Michel G; Bloemendal, Alex; Bloom, Jonathan M; Goldstein, Jacqueline I; Poterba, Timothy; Seed, Cotton; Handsaker, Robert E; Natarajan, Pradeep; Mägi, Reedik; Gage, Diane; Robinson, Elise B; Metspalu, Andres; Salomaa, Veikko; Suvisaari, Jaana; Purcell, Shaun M; Sklar, Pamela; Kathiresan, Sekar; Daly, Mark J; McCarroll, Steven A; Sullivan, Patrick F; Palotie, Aarno; Esko, Tõnu; Hultman, Christina; Neale, Benjamin M.
Afiliação
  • Ganna A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • Genovese G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Howrigan DP; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Byrnes A; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm 171 77, Sweden.
  • Kurki M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Zekavat SM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Whelan CW; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
  • Kals M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • Nivard MG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bloemendal A; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Bloom JM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • Goldstein JI; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Poterba T; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • Handsaker RE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Natarajan P; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Mägi R; Institute for Molecular Medicine Finland, FIMM, University of Helsinki, Helsinki FI-00014, Finland.
  • Gage D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Robinson EB; Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, 02114, USA.
  • Metspalu A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Salomaa V; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Suvisaari J; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.
  • Purcell SM; Estonian Genome Center, University of Tartu, Tartu 51010, Estonia.
  • Sklar P; Institute of Mathematics and Statistics, University of Tartu, Tartu 50409, Estonia.
  • Kathiresan S; Department of Biological Psychology, VU University Amsterdam, Amsterdam 1081 HV, The Netherlands.
  • Daly MJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • McCarroll SA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Sullivan PF; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Palotie A; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
  • Esko T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Hultman C; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Neale BM; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston 02114, MA, USA.
Nat Neurosci ; 19(12): 1563-1565, 2016 12.
Article em En | MEDLINE | ID: mdl-27694993
ABSTRACT
Disruptive, damaging ultra-rare variants in highly constrained genes are enriched in individuals with neurodevelopmental disorders. In the general population, this class of variants was associated with a decrease in years of education (YOE). This effect was stronger among highly brain-expressed genes and explained more YOE variance than pathogenic copy number variation but less than common variants. Disruptive, damaging ultra-rare variants in highly constrained genes influence the determinants of YOE in the general population.
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Variações do Número de Cópias de DNA / Transtornos do Neurodesenvolvimento / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Variações do Número de Cópias de DNA / Transtornos do Neurodesenvolvimento / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article