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The persistence and evolutionary consequences of vestigial behaviours
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Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
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Genomic imprinting as a window into human language evolution
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The effects of genetic ancestry on elite sprint athlete status in the West African diaspora
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Copy number variation screen identifies a rare de novo deletion at chromosome 15q13.1-13.3 in a child with language impairment
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Genome-wide screening for DNA variants associated with reading and language traits
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Gialluisi, Alessandro; Newbury, Dianne F; Wilcutt, Erik G; Olson, Richard K; DeFries, John C; Brandler, William M; Pennington, Bruce F; Smith, Shelley D; Scerri, Thomas S; Simpson, Nuala H; The SLI Consortium; Luciano, Michelle; Evans, David M; Bates, Timothy C; Stein, John F; Talcott, Joel B; Monaco, Anthony P; Paracchini, Silvia; Francks, Clyde; Fisher, Simon E. - 2015
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Abstract:
This research was funded by: Max Planck Society, the University of St Andrews - Grant Number: 018696, US National Institutes of Health - Grant Number: P50 HD027802, Wellcome Trust - Grant Number: 090532/Z/09/Z, and Medical Research Council Hub Grant Grant Number: G0900747 91070 ; Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome‐wide association scan (GWAS) meta‐analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading‐ and language‐related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P ≈ 10–7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on‐going international efforts to identify genes contributing to reading and language skills. ; Publisher PDF ; Peer reviewed
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Keyword:
BDC; BF; BF Psychology; CLDRC; Developmental dyslexia; GWAS; Language; Meta-analysis; Pleiotropic variants; QH426; QH426 Genetics; Reading; Reading disability; SLIC; Specific language impairment
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URL: http://hdl.handle.net/10023/6497
https://onlinelibrary.wiley.com/doi/full/10.1111/gbb.12158#support-information-section
https://doi.org/10.1111/gbb.12158
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort
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Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment
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Mosaic maternal ancestry in the Great Lakes region of East Africa
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Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
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Reading and language disorders : the importance of both quantity and quality
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Counselling uncertainty: genetics professionals' accounts of (non)directiveness and trust/distrust
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Counselling uncertainty: genetics professionals' accounts of (non)directiveness and trust/distrust
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Uniparental Genetic Heritage of Belarusians: Encounter of Rare Middle Eastern Matrilineages with a Central European Mitochondrial DNA Pool
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Statistical issues in modelling the ancestry from Y-chromosome and surname data
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A genetic-based HAC technique for parallel clustering of bilingual Malay-English corpora
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The spatial and temporal dimensions of reflective questions in genetic counselling
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