Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

  1. Gialluisi, Alessandro ORCID logo
  2. Andlauer, Till ORCID logo
  3. Mirza-Schreiber, Nazanin ORCID logo
  4. Moll, Kristina
  5. Becker, Jessica
  6. Hoffmann, Per ORCID logo
  7. Ludwig, Kerstin ORCID logo
  8. Czamara, Darina ORCID logo
  9. St Pourcain, Beate ORCID logo
  10. Honbolygó, Ferenc
  11. Tóth, Dénes
  12. Csépe, Valéria
  13. Huguet, Guillaume ORCID logo
  14. Chaix, Yves
  15. Iannuzzi, Stephanie
  16. Demonet, Jean-Francois
  17. Morris, Andrew P.
  18. Hulslander, Jacqueline
  19. Willcutt, Erik G.
  20. DeFries, John C.
  21. Olson, Richard K.
  22. Smith, Shelley D.
  23. Pennington, Bruce F.
  24. Vaessen, Anniek
  25. Maurer, Urs ORCID logo
  26. Lyytinen, Heikki
  27. Peyrard-Janvid, Myriam
  28. Leppänen, Paavo H. T.
  29. Brandeis, Daniel
  30. Bonte, Milene
  31. Stein, John ORCID logo
  32. Talcott, Joel B ORCID logo
  33. Fauchereau, Fabien
  34. Wilcke, Arndt
  35. Kirsten, Holger ORCID logo
  36. Müller, Bent
  37. Francks, Clyde ORCID logo
  38. Bourgeron, Thomas
  39. Monaco, Anthony ORCID logo
  40. Ramus, Franck ORCID logo
  41. Landerl, Karin
  42. Kere, Juha ORCID logo
  43. Scerri, Thomas S.
  44. Paracchini, Silvia ORCID logo
  45. Fisher, Simon ORCID logo
  46. Schumacher, Johannes
  47. Nöthen, Markus M.
  48. Müller-Myhsok, Bertram
  49. Schulte-Körne, Gerd ORCID logo

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1000 Titel
  • Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
1000 Autor/in
  1. Gialluisi, Alessandro |
  2. Andlauer, Till |
  3. Mirza-Schreiber, Nazanin |
  4. Moll, Kristina |
  5. Becker, Jessica |
  6. Hoffmann, Per |
  7. Ludwig, Kerstin |
  8. Czamara, Darina |
  9. St Pourcain, Beate |
  10. Honbolygó, Ferenc |
  11. Tóth, Dénes |
  12. Csépe, Valéria |
  13. Huguet, Guillaume |
  14. Chaix, Yves |
  15. Iannuzzi, Stephanie |
  16. Demonet, Jean-Francois |
  17. Morris, Andrew P. |
  18. Hulslander, Jacqueline |
  19. Willcutt, Erik G. |
  20. DeFries, John C. |
  21. Olson, Richard K. |
  22. Smith, Shelley D. |
  23. Pennington, Bruce F. |
  24. Vaessen, Anniek |
  25. Maurer, Urs |
  26. Lyytinen, Heikki |
  27. Peyrard-Janvid, Myriam |
  28. Leppänen, Paavo H. T. |
  29. Brandeis, Daniel |
  30. Bonte, Milene |
  31. Stein, John |
  32. Talcott, Joel B |
  33. Fauchereau, Fabien |
  34. Wilcke, Arndt |
  35. Kirsten, Holger |
  36. Müller, Bent |
  37. Francks, Clyde |
  38. Bourgeron, Thomas |
  39. Monaco, Anthony |
  40. Ramus, Franck |
  41. Landerl, Karin |
  42. Kere, Juha |
  43. Scerri, Thomas S. |
  44. Paracchini, Silvia |
  45. Fisher, Simon |
  46. Schumacher, Johannes |
  47. Nöthen, Markus M. |
  48. Müller-Myhsok, Bertram |
  49. Schulte-Körne, Gerd |
1000 Erscheinungsjahr 2020
1000 Publikationstyp
  1. Artikel |
1000 Online veröffentlicht
  • 2020-10-14
1000 Erschienen in
1000 Quellenangabe
  • 26(7):3004-3017
1000 Copyrightjahr
  • 2020
1000 Lizenz
1000 Verlagsversion
  • https://doi.org/10.1038/s41380-020-00898-x |
  • https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8505236/ |
1000 Publikationsstatus
1000 Sprache der Publikation
1000 Abstract/Summary
  • Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40-60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10?6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20-25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p = 8 × 10?13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10?43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10?22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10?12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10?4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10?7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10?29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.
1000 Sacherschließung
lokal Genetic Predisposition to Disease [MeSH]
lokal Article
lokal Intracellular Signaling Peptides and Proteins/genetics [MeSH]
lokal Genetics
lokal Neuroscience
lokal Polymorphism, Single Nucleotide [MeSH]
lokal Dyslexia/genetics [MeSH]
lokal Humans [MeSH]
lokal Psychiatric disorders
lokal Multifactorial Inheritance [MeSH]
lokal Attention Deficit Disorder with Hyperactivity/genetics [MeSH]
lokal Genome-Wide Association Study [MeSH]
1000 Liste der Beteiligten
  1. https://orcid.org/0000-0002-7388-4463|https://orcid.org/0000-0002-2917-5889|https://orcid.org/0000-0003-0836-8267|https://frl.publisso.de/adhoc/uri/TW9sbCwgS3Jpc3RpbmE=|https://frl.publisso.de/adhoc/uri/QmVja2VyLCBKZXNzaWNh|https://orcid.org/0000-0002-6573-983X|https://orcid.org/0000-0002-8541-2519|https://orcid.org/0000-0001-7381-904X|https://orcid.org/0000-0002-4680-3517|https://frl.publisso.de/adhoc/uri/SG9uYm9seWfDsywgRmVyZW5j|https://frl.publisso.de/adhoc/uri/VMOzdGgsIETDqW5lcw==|https://frl.publisso.de/adhoc/uri/Q3PDqXBlLCBWYWzDqXJpYQ==|https://orcid.org/0000-0002-4746-6030|https://frl.publisso.de/adhoc/uri/Q2hhaXgsIFl2ZXM=|https://frl.publisso.de/adhoc/uri/SWFubnV6emksIFN0ZXBoYW5pZQ==|https://frl.publisso.de/adhoc/uri/RGVtb25ldCwgSmVhbi1GcmFuY29pcw==|https://frl.publisso.de/adhoc/uri/TW9ycmlzLCBBbmRyZXcgUC4=|https://frl.publisso.de/adhoc/uri/SHVsc2xhbmRlciwgSmFjcXVlbGluZQ==|https://frl.publisso.de/adhoc/uri/V2lsbGN1dHQsIEVyaWsgRy4=|https://frl.publisso.de/adhoc/uri/RGVGcmllcywgSm9obiBDLg==|https://frl.publisso.de/adhoc/uri/T2xzb24sIFJpY2hhcmQgSy4=|https://frl.publisso.de/adhoc/uri/U21pdGgsIFNoZWxsZXkgRC4=|https://frl.publisso.de/adhoc/uri/UGVubmluZ3RvbiwgQnJ1Y2UgRi4=|https://frl.publisso.de/adhoc/uri/VmFlc3NlbiwgQW5uaWVr|https://orcid.org/0000-0002-4156-8597|https://frl.publisso.de/adhoc/uri/THl5dGluZW4sIEhlaWtraQ==|https://frl.publisso.de/adhoc/uri/UGV5cmFyZC1KYW52aWQsIE15cmlhbQ==|https://frl.publisso.de/adhoc/uri/TGVwcMOkbmVuLCBQYWF2byBILiBULg==|https://frl.publisso.de/adhoc/uri/QnJhbmRlaXMsIERhbmllbA==|https://frl.publisso.de/adhoc/uri/Qm9udGUsIE1pbGVuZQ==|https://orcid.org/0000-0001-5843-8986|https://orcid.org/0000-0001-7958-8369|https://frl.publisso.de/adhoc/uri/RmF1Y2hlcmVhdSwgRmFiaWVu|https://frl.publisso.de/adhoc/uri/V2lsY2tlLCBBcm5kdA==|https://orcid.org/0000-0002-3126-7950|https://frl.publisso.de/adhoc/uri/TcO8bGxlciwgQmVudA==|https://orcid.org/0000-0002-9098-890X|https://frl.publisso.de/adhoc/uri/Qm91cmdlcm9uLCBUaG9tYXM=|https://orcid.org/0000-0001-7480-3197|https://orcid.org/0000-0002-1122-5913|https://frl.publisso.de/adhoc/uri/TGFuZGVybCwgS2FyaW4=|https://orcid.org/0000-0003-1974-0271|https://frl.publisso.de/adhoc/uri/U2NlcnJpLCBUaG9tYXMgUy4=|https://orcid.org/0000-0001-9934-8602|https://orcid.org/0000-0002-3132-1996|https://frl.publisso.de/adhoc/uri/U2NodW1hY2hlciwgSm9oYW5uZXM=|https://frl.publisso.de/adhoc/uri/TsO2dGhlbiwgTWFya3VzIE0u|https://frl.publisso.de/adhoc/uri/TcO8bGxlci1NeWhzb2ssIEJlcnRyYW0=|https://orcid.org/0000-0002-9960-1572
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