دورية أكاديمية
أعرض في EDS

Genome-wide screening for DNA variants associated with reading and language traits.

التفاصيل البيبلوغرافية
العنوان: Genome-wide screening for DNA variants associated with reading and language traits.
المؤلفون: Gialluisi A; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands., Newbury DF, Wilcutt EG, Olson RK, DeFries JC, Brandler WM, Pennington BF, Smith SD, Scerri TS, Simpson NH, Luciano M, Evans DM, Bates TC, Stein JF, Talcott JB, Monaco AP, Paracchini S, Francks C, Fisher SE
مؤلفون مشاركون: SLI Consortium
المصدر: Genes, brain, and behavior [Genes Brain Behav] 2014 Sep; Vol. 13 (7), pp. 686-701. Date of Electronic Publication: 2014 Aug 29.
نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: England NLM ID: 101129617 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1601-183X (Electronic) Linking ISSN: 1601183X NLM ISO Abbreviation: Genes Brain Behav Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford : Munksgaard, c2002-
مواضيع طبية MeSH: Genome, Human* , Polymorphism, Single Nucleotide*, Dyslexia/*genetics, Adolescent ; Case-Control Studies ; Child ; Female ; Genetic Pleiotropy ; Genome-Wide Association Study ; Humans ; Language Tests ; Male ; Neoplasm Proteins/genetics ; RNA Splicing Factors ; RNA-Binding Proteins/genetics ; Repressor Proteins/genetics
مستخلص: 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.
(© 2014 The Authors. Genes, Brain and Behavior published by International Behavioural and Neural Genetics Society and John Wiley & Sons Ltd.)
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معلومات مُعتمدة: R01 HD068728 United States HD NICHD NIH HHS; P50 HD027802 United States HD NICHD NIH HHS; R01 HD047264 United States HD NICHD NIH HHS; 102215 United Kingdom WT_ Wellcome Trust; MC_PC_15018 United Kingdom MRC_ Medical Research Council; G1000569 United Kingdom MRC_ Medical Research Council; 090532/Z/09/Z United Kingdom WT_ Wellcome Trust; G9815508 United Kingdom MRC_ Medical Research Council; United Kingdom WT_ Wellcome Trust; MC_UU_12013/4 United Kingdom MRC_ Medical Research Council
فهرسة مساهمة: Keywords: CLDRC; GWAS; SLIC; developmental dyslexia; language; meta-analysis; pleiotropic variants; reading; reading disability; specific language impairment
المشرفين على المادة: 0 (CCDC136 protein, human)
0 (Neoplasm Proteins)
0 (RBFOX2 protein, human)
0 (RNA Splicing Factors)
0 (RNA-Binding Proteins)
0 (Repressor Proteins)
تواريخ الأحداث: Date Created: 20140729 Date Completed: 20150522 Latest Revision: 20220129
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC4165772
DOI: 10.1111/gbb.12158
PMID: 25065397
قاعدة البيانات: MEDLINE
الوصف
تدمد:1601-183X
DOI:10.1111/gbb.12158