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Record W4306888850 · doi:10.1038/s41588-022-01192-y

Discovery of 42 genome-wide significant loci associated with dyslexia

2022· article· en· W4306888850 on OpenAlex
Catherine Doust, Pierre Fontanillas, Else Eising, Scott D. Gordon, Zhengjun Wang, Gökberk Alagöz, Barbara Molz, Stella Aslibekyan, Adam Auton, Elizabeth Babalola, Robert K. Bell, Jessica Bielenberg, Katarzyna Bryc, Emily Bullis, Daniella Coker, Gabriel Cuéllar-Partida, Devika Dhamija, Sayantan Das, Sarah L. Elson, Teresa Filshtein, Kipper Fletez‐Brant, Will Freyman, Pooja Gandhi, Karl Heilbron, Barry Hicks, David A. Hinds, Ethan M. Jewett, Yunxuan Jiang, Katelyn Kukar, Keng‐Han Lin, Maya Lowe, Jey C. McCreight, Matthew H. McIntyre, Steven J. Micheletti, Meghan E. Moreno, Joanna L. Mountain, Priyanka Nandakumar, Elizabeth S. Noblin, Jared O’Connell, Aaron A. Petrakovitz, G. David Poznik, Morgan Schumacher, Anjali J. Shastri, Janie F. Shelton, Jingchunzi Shi, Suyash Shringarpure, Vinh Tran, Joyce Y. Tung, Xin Wang, Wei Wang, Catherine H. Weldon, Peter Wilton, Alejandro Hernandez, Corinna Wong, Christophe Toukam Tchakouté, Filippo Abbondanza, Andrea G. Allegrini, Till F. M. Andlauer, Cathy L. Barr, Manon Bernard, Kirsten Blokland, Milene Bonte, Dorret I. Boomsma, Thomas Bourgeron, Daniel Brandeis, Manuel Carreiras, Fabiola Ceroni, Valéria Csépe, Philip S. Dale, Peter F. de Jong, Jean‐François Démonet, Eveline L. de Zeeuw, Yu Feng, Marie-Christine Franken, Margot Gerritse, Alessandro Gialluisi, Sharon Guger, Marianna E. Hayiou‐Thomas, Juan Hernández, Jouke‐Jan Hottenga, Charles Hulme, Philip R. Jansen, Juha Kere, Elizabeth N. Kerr, Tanner Koomar, Karin Landerl, Gabriel Leonard, Zhijie Liao, Maureen W. Lovett, Heikki Lyytinen, Angela Martinelli, Urs Maurer, Jacob J. Michaelson, Nazanin Mirza‐Schreiber, Kristina Moll, Angela Morgan, Bertram Müller‐Myhsok, Dianne F. Newbury, Markus M. Nöthen, Tomáš Paus, Zdenka Pausová, Craig E. Pennell, Robert Plomin, Kaitlyn M. Price, Franck Ramus, Sheena Reilly, Louis Richer, Kaili Rimfeld, Gerd Schulte‐Körne, Chin Yang Shapland, Nuala H. Simpson, Margaret J. Snowling, John Stein, Lisa J. Strug, 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 Whitehouse, Karen Wigg, Margaret Wilkinson, Gu Zhu, Beaté St Pourcain, Clyde Francks, Riccardo E. Marioni, Jingjing Zhao, Silvia Paracchini, Joel B. Talcott, Anthony P. Monaco, Jeffrey R. Gruen, Richard K. Olson, Erik G. Willcutt, John C. DeFries, Bruce F. Pennington, Shelley D. Smith, Margaret J. Wright, Nicholas G. Martin, Timothy C. Bates, Simon E. Fisher, Michelle Luciano

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.

Bibliographic record

VenueNature Genetics · 2022
Typearticle
Languageen
FieldPsychology
TopicReading and Literacy Development
Canadian institutionsUniversité du Québec à ChicoutimiUniversité de MontréalCentre Hospitalier Universitaire Sainte-JustineHospital for Sick ChildrenUniversity of TorontoUniversity Health Network
FundersNational Center for Advancing Translational SciencesNational Natural Science Foundation of ChinaMax-Planck-GesellschaftEunice Kennedy Shriver National Institute of Child Health and Human DevelopmentAgence Nationale de la RechercheRoyal Society
KeywordsDyslexiaBiologyGenome-wide association studyHeritabilityGeneticsReading disabilityReading (process)Developmental psychologyPsychologyGeneSingle-nucleotide polymorphismGenotype

Abstract

fetched live from OpenAlex

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.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.022
Threshold uncertainty score0.538

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.001
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.010
GPT teacher head0.262
Teacher spread0.252 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it