期刊
GENES BRAIN AND BEHAVIOR
卷 13, 期 7, 页码 686-701出版社
WILEY
DOI: 10.1111/gbb.12158
关键词
pleiotropic variants; CLDRC; developmental dyslexia; GWAS; language; meta-analysis; reading; reading disability; SLIC; specific language impairment
资金
- Max Planck Society
- University of St Andrews
- EU (Neurodys) [018696]
- US National Institutes of Health [P50 HD027802]
- Wellcome Trust [090532/Z/09/Z, 092731]
- Medical Research Council Hub Grant [G0900747 91070]
- Medical Research Council [G9815508, G1000569, MC_PC_15018, MC_UU_12013/4] Funding Source: researchfish
- MRC [G1000569, MC_UU_12013/4] Funding Source: UKRI
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 approximate to 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.
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