Discovery of 42 genome-wide significant loci associated with dyslexia
Authors: Doust Catherine , Fontanillas Pierre , Eising Else , Gordon Scott D. , Wang Zhengjun , Alagöz Gökberk , Molz Barbara ,   23andMe Research Team, Aslibekyan Stella , Auton Adam , Babalola Elizabeth , Bell Robert K. , Bielenberg Jessica , Bryc Katarzyna , Bullis Emily , Coker Daniella , Partida Gabriel Cuellar , Dhamija Devika , Das Sayantan , Elson Sarah L. , Filshtein Teresa , Fletez-Brant Kipper , Freyman Will , Gandhi Pooja M. , Heilbron Karl , Hicks Barry , Hinds David A. , Jewett Ethan M. , Jiang Yunxuan , Kukar Katelyn , Lin Keng-Han , Lowe Maya , McCreight Jey , McIntyre Matthew H. , Micheletti Steven J. , Moreno Meghan E. , Mountain Joanna L. , Nandakumar Priyanka , Noblin Elizabeth S. , O’Connell Jared , Petrakovitz Aaron A. , Poznik G. David , Schumacher Morgan , Shastri Anjali J. , Shelton Janie F. , Shi Jingchunzi , Shringarpure Suyash , Tran Vinh , Tung Joyce Y. , Wang Xin , Wang Wei , Weldon Catherine H. , Wilton Peter , Hernandez Alejandro , Wong Corinna , Tchakouté Christophe Toukam ,   Quantitative Trait Working Group of the GenLang Consortium, Abbondanza Filippo , Allegrini Andrea G. , Andlauer Till F. M. , Barr Cathy L. , Bernard Manon , Blokland Kirsten , Bonte Milene , Boomsma Dorret I. , Bourgeron Thomas , Brandeis Daniel , Carreiras Manuel , Ceroni Fabiola , Csépe Valéria , Dale Philip S. , de Jong Peter F. , Démonet Jean Francois , de Zeeuw Eveline L. , Feng Yu , Franken Marie-Christine J. , Gerritse Margot , Gialluisi Alessandro , Guger Sharon L. , Hayiou-Thomas Marianna E. , Hernández-Cabrera Juan , Hottenga Jouke-Jan , Hulme Charles , Jansen Philip R. , Kere Juha , Kerr Elizabeth N. , Koomar Tanner , Landerl Karin , Leonard Gabriel T. , Liao Zhijie , Lovett Maureen W. , Lyytinen Heikki , Martinelli Angela , Maurer Urs , Michaelson Jacob J. , Mirza-Schreiber Nazanin , Moll Kristina , Morgan Angela T. , Müller-Myhsok Bertram , Newbury Dianne F. , Nöthen Markus M. , Paus Tomas , Pausova Zdenka , Pennell Craig E. , Plomin Robert J. , Price Kaitlyn M. , Ramus Franck , Reilly Sheena , Richer Louis , Rimfeld Kaili , Schulte-Körne Gerd , Shapland Chin Yang , Simpson Nuala H. , Snowling Margaret J. , Stein John F. , Strug Lisa J. , Tiemeier Henning , Tomblin J. Bruce , Truong Dongnhu T. , van Bergen Elsje , van der Schroeff Marc P. , Van Donkelaar Marjolein , Verhoef Ellen , Wang Carol A. , Watkins Kate E. , Whitehouse Andrew J. O. , Wigg Karen G. , Wilkinson Margaret , Zhu Gu , 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 
Published: October 2022

AbstractReading 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.