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Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.
Discovery of 42 genome-wide significant loci associated with dyslexia / Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gökberk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle;
*Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 54:11(2022), pp. 1621-1629. [10.1038/s41588-022-01192-y]
Discovery of 42 genome-wide significant loci associated with dyslexia
Doust, Catherine;Fontanillas, Pierre;Eising, Else;Gordon, Scott D;Wang, Zhengjun;Alagöz, Gökberk;Molz, Barbara;23andMe Research Team;Quantitative Trait Working Group of the GenLang Consortium;Pourcain, Beate St;Francks, Clyde;Marioni, Riccardo E;Zhao, Jingjing;Paracchini, Silvia;Talcott, Joel B;Monaco, Anthony P;Stein, John F;Gruen, Jeffrey R;Olson, Richard K;Willcutt, Erik G;DeFries, John C;Pennington, Bruce F;Smith, Shelley D;Wright, Margaret J;Martin, Nicholas G;Auton, Adam;Bates, Timothy C;Fisher, Simon E;Luciano, Michelle;Filippo Abbondanza;Andrea G. Allegrini;Till F. M. Andlauer;Cathy L. Barr;Timothy C. Bates;Manon Bernard;Kirsten Blokland;Milene Bonte;Dorret I. Boomsma;Thomas Bourgeron;Daniel Brandeis;Manuel Carreiras;Fabiola Ceroni;Valéria Csépe;Philip S. Dale;John C. DeFries;Peter F. de Jong;Jean Francois Démonet;Eveline L. de Zeeuw;Else Eising;Yu Feng;Simon E. Fisher;Marie-Christine J. Franken;Clyde Francks;Margot Gerritse;Alessandro Gialluisi;Scott D. Gordon;Jeffrey R. Gruen;Sharon L. Guger;Marianna E. Hayiou-Thomas;Juan Hernández-Cabrera;Jouke-Jan Hottenga;Charles Hulme;Philip R. Jansen;Juha Kere;Elizabeth N. Kerr;Tanner Koomar;Karin Landerl;Gabriel T. Leonard;Zhijie Liao;Maureen W. Lovett;Michelle Luciano;Heikki Lyytinen;Nicholas G. Martin;Angela Martinelli;Urs Maurer;Jacob J. Michaelson;Nazanin Mirza-Schreiber;Kristina Moll;Anthony P. Monaco;Angela T. Morgan;Bertram Müller-Myhsok;Dianne F. Newbury;Markus M. Nöthen;Richard K. Olson;Silvia Paracchini;Tomas Paus;Zdenka Pausova;Craig E. Pennell;Bruce F. Pennington;Robert J. Plomin;Kaitlyn M. Price;Franck Ramus;Sheena Reilly;Louis Richer;Kaili Rimfeld;Gerd Schulte-Körne;Chin Yang Shapland;Nuala H. Simpson;Shelley D. Smith;Margaret J. Snowling;Beate St Pourcain;John F. Stein;Lisa J. Strug;Joel B. Talcott;Henning Tiemeier;J. Bruce Tomblin;Dongnhu T. Truong;Elsje van Bergen;Marc P. van der Schroeff;Marjolein Van Donkelaar;Ellen Verhoef;Carol A. Wang;Kate E. Watkins;Andrew J. O. Whitehouse;Karen G. Wigg;Erik G. Willcutt;Margaret Wilkinson;Margaret J. Wright &;Gu Zhu
2022
Abstract
Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.
Discovery of 42 genome-wide significant loci associated with dyslexia / Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gökberk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle;
*Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu. - In: NATURE GENETICS. - ISSN 1061-4036. - STAMPA. - 54:11(2022), pp. 1621-1629. [10.1038/s41588-022-01192-y]
Doust, Catherine; Fontanillas, Pierre; Eising, Else; Gordon, Scott D; Wang, Zhengjun; Alagöz, Gökberk; Molz, Barbara; 23andMe Research Team; Quantitative Trait Working Group of the GenLang Consortium*; Pourcain, Beate St; Francks, Clyde; Marioni, Riccardo E; Zhao, Jingjing; Paracchini, Silvia; Talcott, Joel B; Monaco, Anthony P; Stein, John F; Gruen, Jeffrey R; Olson, Richard K; Willcutt, Erik G; DeFries, John C; Pennington, Bruce F; Smith, Shelley D; Wright, Margaret J; Martin, Nicholas G; Auton, Adam; Bates, Timothy C; Fisher, Simon E; Luciano, Michelle;
*Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Timothy C. Bates, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, John C. DeFries, Peter F. de Jong, Jean Francois Démonet, Eveline L. de Zeeuw, Else Eising, Yu Feng, Simon E. Fisher, Marie-Christine J. Franken, Clyde Francks, Margot Gerritse, Alessandro Gialluisi, Scott D. Gordon, Jeffrey R. Gruen, Sharon L. Guger, Marianna E. Hayiou-Thomas, Juan Hernández-Cabrera, Jouke-Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel T. Leonard, Zhijie Liao, Maureen W. Lovett, Michelle Luciano, Heikki Lyytinen, Nicholas G. Martin, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza-Schreiber, Kristina Moll, Anthony P. Monaco, Angela T. Morgan, Bertram Müller-Myhsok, Dianne F. Newbury, Markus M. Nöthen, Richard K. Olson, Silvia Paracchini, Tomas Paus, Zdenka Pausova, Craig E. Pennell, Bruce F. Pennington, Robert J. Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte-Körne, Chin Yang Shapland, Nuala H. Simpson, Shelley D. Smith, Margaret J. Snowling, Beate St Pourcain, John F. Stein, Lisa J. Strug, Joel B. Talcott, Henning Tiemeier, J. Bruce Tomblin, Dongnhu T. Truong, Elsje van Bergen, Marc P. van der Schroeff, Marjolein Van Donkelaar, Ellen Verhoef, Carol A. Wang, Kate E. Watkins, Andrew J. O. Whitehouse, Karen G. Wigg, Erik G. Willcutt, Margaret Wilkinson, Margaret J. Wright & Gu Zhu
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Il report seguente simula gli indicatori relativi alla propria produzione scientifica in relazione alle soglie ASN 2023-2025 del proprio SC/SSD. Si ricorda che il superamento dei valori soglia (almeno 2 su 3) è requisito necessario ma non sufficiente al conseguimento dell'abilitazione. La simulazione si basa sui dati IRIS e sugli indicatori bibliometrici alla data indicata e non tiene conto di eventuali periodi di congedo obbligatorio, che in sede di domanda ASN danno diritto a incrementi percentuali dei valori. La simulazione può differire dall'esito di un’eventuale domanda ASN sia per errori di catalogazione e/o dati mancanti in IRIS, sia per la variabilità dei dati bibliometrici nel tempo. Si consideri che Anvur calcola i valori degli indicatori all'ultima data utile per la presentazione delle domande.
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