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

: Müller, Bent; Wilcke, Arndt; Czepezauer, Ivonne; Ahnert, Peter; Boltze, Johannes; Kirsten, Holger; Friederici, Angela D.; Emmrich, Frank; Brauer, Jens; Neef, Nicole; Skeide, Michael A.; Schaadt, Gesa; Kraft, Indra; Dörr, Liane

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Scientific Reports 6 (2016), Art. 27901, 11 pp.
ISSN: 2045-2322
Journal Article, Electronic Publication
Fraunhofer IZI ()
Fraunhofer EMB ()

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.