Discovery of 42 genome-wide significant loci associated with dyslexia

doi:10.1038/s41588-022-01192-y

Discovery of 42 genome-wide significant loci associated with dyslexia

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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.

Original language	English
Pages (from-to)	1621-1629
Number of pages	9
Journal	Nature Genetics
Volume	54
Issue number	11
Early online date	20 Oct 2022
DOIs	https://doi.org/10.1038/s41588-022-01192-y
Publication status	Published - Nov 2022

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Copyright © 2022, The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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Copyright © 2022, The Author(s). This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Final published version, 7.78 MBLicence: CC BY 4.0

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title = "Discovery of 42 genome-wide significant loci associated with dyslexia",

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.",

author = "Catherine Doust and Pierre Fontanillas and Else Eising and Gordon, {Scott D} and Zhengjun Wang and G{\"o}kberk Alag{\"o}z and Barbara Molz and Pourcain, {Beate St} and Clyde Francks and Marioni, {Riccardo E} and Jingjing Zhao and Silvia Paracchini and Talcott, {Joel B} and Monaco, {Anthony P} and Stein, {John F} and Gruen, {Jeffrey R} and Olson, {Richard K} and Willcutt, {Erik G} and DeFries, {John C} and Pennington, {Bruce F} and Smith, {Shelley D} and Wright, {Margaret J} and Martin, {Nicholas G} and Adam Auton and Bates, {Timothy C} and Fisher, {Simon E} and Michelle Luciano",

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AU - Pourcain, Beate St

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AU - Wright, Margaret J

AU - Martin, Nicholas G

AU - Auton, Adam

AU - Bates, Timothy C

AU - Fisher, Simon E

AU - Luciano, Michelle

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N2 - 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.

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Discovery of 42 genome-wide significant loci associated with dyslexia

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