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  Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort

Müller, B., Wilcke, A., Czepezauer, I., Ahnert, P., Boltze, J., Kirsten, H., et al. (2016). Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort. Scientific Reports, 6: 27901. doi:10.1038/srep27901.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-FB16-7 Version Permalink: http://hdl.handle.net/21.11116/0000-0003-1F0D-E
Genre: Journal Article

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 Creators:
Müller, Bent1, 2, Author
Wilcke, Arndt1, 2, 3, Author
Czepezauer, Ivonne1, 2, Author
Ahnert, Peter4, 5, Author
Boltze, Johannes1, 2, 6, Author
Kirsten, Holger1, 2, 3, 4, 5, Author
the LEGASCREEN Consortium, Author              
Skeide, Michael A.2, 7, Contributor              
Friederici, Angela D.2, 7, Contributor              
Emmrich, Frank1, 2, 7, Contributor
Schaadt, Gesa2, 7, 8, Contributor              
Kraft, Indra2, 7, Contributor              
Brauer, Jens2, 7, Contributor              
Neef, Nicole2, 7, Contributor              
Dörr, Liane2, 7, Contributor
Affiliations:
1Fraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany, ou_persistent22              
2the LEGASCREEN Consortium, ou_persistent22              
3Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Germany, ou_persistent22              
4Institute for Medical Informatics, Statistics and Epidemiology (IMISE), University of Leipzig, Germany, ou_persistent22              
5Leipzig Research Center for Civilization Diseases (LIFE), University of Leipzig, Germany, ou_persistent22              
6Department of Medical Cell Technology, Fraunhofer Institute for Marine Biotechnology, Lübeck, Germany, ou_persistent22              
7Department Neuropsychology, MPI for Human Cognitive and Brain Sciences, Max Planck Society, ou_634551              
8Department of Psychology, Humboldt University Berlin, Germany, ou_persistent22              

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 Abstract: Dyslexia is a severe disorder in the acquisition of reading and writing. Several studies investigated the role of genetics for reading, writing and spelling ability in the general population. However, many of the identified SNPs were not analysed in case-control cohorts. Here, we investigated SNPs previously linked to reading or spelling ability in the general population in a German case-control cohort. Furthermore, we characterised these SNPs for functional relevance with in silico methods and meta-analysed them with previous studies. A total of 16 SNPs within five genes were included. The total number of risk alleles was higher in cases than in controls. Three SNPs were nominally associated with dyslexia: rs7765678 within DCDC2, and rs2038137 and rs6935076 within KIAA0319. The relevance of rs2038137 and rs6935076 was further supported by the meta-analysis. Functional profiling included analysis of tissue-specific expression, annotations for regulatory elements and effects on gene expression levels (eQTLs). Thereby, we found molecular mechanistical implications for 13 of all 16 included SNPs. SNPs associated in our cohort showed stronger gene-specific eQTL effects than non-associated SNPs. In summary, our results validate SNPs previously linked to reading and spelling in the general population in dyslexics and provide insights into their putative molecular pathomechanisms.

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Language(s): eng - English
 Dates: 2015-10-222016-05-262016-06-17
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1038/srep27901
PMID: 27312598
PMC: PMC4911550
 Degree: -

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Title: Scientific Reports
  Abbreviation : Sci. Rep.
Source Genre: Journal
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Publ. Info: London, UK : Nature Publishing Group
Pages: - Volume / Issue: 6 Sequence Number: 27901 Start / End Page: - Identifier: Other: 2045-2322
CoNE: /journals/resource/2045-2322