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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
Disruptive and damaging ultra-rare variants (URVs) in highly constrained (HC) 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; −3.1 months; P-value=3.3×10(−8)). This effec...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127781/ https://www.ncbi.nlm.nih.gov/pubmed/27694993 http://dx.doi.org/10.1038/nn.4404 |
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| author | 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. |
| author_facet | 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. |
| author_sort | Ganna, Andrea |
| collection | PubMed |
| description | Disruptive and damaging ultra-rare variants (URVs) in highly constrained (HC) 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; −3.1 months; P-value=3.3×10(−8)). This effect was stronger among high brain-expressed genes and explained more YOE variance than pathogenic copy number variation, but less than common variants. Disruptive and damaging URVs in HC genes influence the determinants of YOE in the general population. |
| format | Online Article Text |
| id | pubmed-5127781 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-51277812017-04-03 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. Nat Neurosci Article Disruptive and damaging ultra-rare variants (URVs) in highly constrained (HC) 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; −3.1 months; P-value=3.3×10(−8)). This effect was stronger among high brain-expressed genes and explained more YOE variance than pathogenic copy number variation, but less than common variants. Disruptive and damaging URVs in HC genes influence the determinants of YOE in the general population. 2016-10-03 2016-12 /pmc/articles/PMC5127781/ /pubmed/27694993 http://dx.doi.org/10.1038/nn.4404 Text en Users may view, print, copy, and download text and data-mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use:http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article 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. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title | Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title_full | Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title_fullStr | Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title_full_unstemmed | Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title_short | Ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| title_sort | ultra-rare disruptive and damaging mutations influence educational attainment in the general population |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5127781/ https://www.ncbi.nlm.nih.gov/pubmed/27694993 http://dx.doi.org/10.1038/nn.4404 |
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