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Discovery of 42 genome-wide significant loci associated with dyslexia

  • Catherine Doust
  • , Pierre Fontanillas
  • , Else Eising
  • , Dorret I. Boomsma
  • , Eveline L. De Zeeuw
  • , Jouke-Jan Hottenga
  • , Philip R. Jansen
  • , Elsje Van Bergen
  • , Timothy C. Bates
  • , Simon E. Fisher
  • , Michelle Luciano
  • , Quantitative Trait Working Group of the GenLang Consortium

Research output: Contribution to JournalArticleAcademicpeer-review

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 languageEnglish
Pages (from-to)1621-1629
Number of pages9
JournalNature genetics
Volume54
Issue number11
Early online date20 Oct 2022
DOIs
Publication statusPublished - Nov 2022

Funding

We thank the research participants and employees of 23andMe Inc, the GenLang Consortium, the Brisbane Adults Reading Study, and the CRS. E.E., G.A., B.M., B.S.P., C.F. and S.E.F. are supported by the Max Planck Society (Germany). The CRS was supported by grants from the National Natural Science Foundation of China (Grant No. 61807023), Funds for Humanities and Social Sciences Research of the Ministry of Education (Grant No. 19YJC190023 and 17XJC190010) and General Project of Shaanxi Natural Science Basic Research Program (2018JQ8015) (Grant No. 2018JQ8015 and 2021JQ-309). S.P. is funded by the Royal Society. Acknowledgements for the GenLang Consortium appear in the Supplementary Note.

FundersFunder number
Max-Planck-Gesellschaft
Royal Society
National Health and Medical Research Council389891
Ministry of Education17XJC190010, 19YJC190023
General Project of Shaanxi Natural Science Basic Research Program2018JQ8015, 2021JQ-309
National Natural Science Foundation of China61807023

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