Browse
Submit Data
Databases
API
Help

Dataset Information

19 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

The genetics of reading disabilities: from phenotypes to candidate genes.

ABSTRACT: This article provides an overview of (a) issues in definition and diagnosis of specific reading disabilities at the behavioral level that may occur in different constellations of developmental and phenotypic profiles (patterns); (b) rapidly expanding research on genetic heterogeneity and gene candidates for dyslexia and other reading disabilities; (c) emerging research on gene-brain relationships; and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behavioral expression of genetic variations. A glossary of genetic terms (denoted by bold font) is provided for readers not familiar with the technical terms.

SUBMITTER: Raskind WH

PROVIDER: S-EPMC3538356 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

The genetics of reading disabilities: from phenotypes to candidate genes.

Raskind Wendy H WH Peter Beate B Richards Todd T Eckert Mark M MM Berninger Virginia W VW

Frontiers in psychology 20130107

This article provides an overview of (a) issues in definition and diagnosis of specific reading disabilities at the behavioral level that may occur in different constellations of developmental and phenotypic profiles (patterns); (b) rapidly expanding research on genetic heterogeneity and gene candidates for dyslexia and other reading disabilities; (c) emerging research on gene-brain relationships; and (d) current understanding of epigenetic mechanisms whereby environmental events may alter behav ...[more]

PMID: 23308072

Similar Datasets

The KIAA0319-like (KIAA0319L) gene on chromosome 1p34 as a candidate for reading disabilities.

Project description:A locus on chromosome 1p34-36 (DYX8) has been linked to developmental dyslexia or reading disabilities (RD) in three independent samples. In the current study, we investigated a candidate gene KIAA0319-Like (KIAA0319L) within DYX8, as it is homologous to KIAA0319, a strong RD candidate gene on chromosome 6p (DYX2). Association was assessed by using five tagging single nucleotide polymorphisms in a sample of 291 nuclear families ascertained through a proband with reading difficulties. Evidence of association was found for a single marker (rs7523017; P=0.042) and a haplotype (P=0.031), with RD defined as a categorical trait in a subset of the sample (n=156 families) with a proband that made our criteria for RD. The same haplotype also showed evidence for association with quantitative measures of word-reading efficiency (i.e., a composite score of word identification and decoding; P=0.032) and rapid naming of objects and colors (P=0.047) when analyzed using the entire sample. Although the results from the current study are modestly significant and would not withstand a correction for multiple testing, KIAA0319L remains an intriguing positional and functional candidate for RD, especially when considered alongside the supporting evidence for its homolog KIAA0319 on chromosome 6p. Additional studies in independent samples are now required to confirm these findings.

| S-EPMC5381963 | biostudies-literature

A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.

Project description:Reading disabilities (RD) have a significant genetic basis and have shown linkage to multiple regions including chromosome 15q. Dyslexia susceptibility 1 candidate gene 1 (DYX1C1) on chromosome 15q21 was originally proposed as a candidate gene with two potentially functional polymorphisms at the -3G/A and 1249G/T positions showing association with RD. However, subsequent studies have yielded mixed results. We performed a literature review and meta-analysis of the -3G/A and 1249G/T polymorphisms, including new unpublished data from two family-based samples. Ten markers in DYX1C1 were genotyped in the two independently ascertained samples. Single marker and -3G/A:1249G/T haplotype analyses were performed for RD in both samples, and quantitative trait analyses using standardized reading-related measures was performed in one of the samples. For the meta-analysis, we used a random-effects model to summarize studies that tested for association between -3G/A or 1249G/T and RD. No significant association was found between the DYX1C1 SNPs and RD or any of the reading-related measures tested after correction for the number of tests performed. The previously reported risk haplotype (-3A:1249T) was not biased in transmission. A total of 9 and 10 study samples were included in the meta-analysis of the -3G/A and 1249G/T polymorphisms, respectively. Neither polymorphism reached statistical significance, but the heterogeneity for the 1249G/T polymorphism was high. The results of this study do not provide evidence for association between the putatively functional SNPs -3G/A and 1249G/T and RD.

| S-EPMC5381964 | biostudies-literature

Association of attention-deficit/hyperactivity disorder with a candidate region for reading disabilities on chromosome 6p.

Project description:BACKGROUND:Reading disabilities (RD) and attention-deficit hyperactivity/disorder (ADHD) are two common childhood disorders that co-occur by chance more often than expected. Twin studies and overlapping genetic linkage findings indicate that shared genetic factors partially contribute to this comorbidity. Linkage of ADHD to 6p, an identified RD candidate locus, has previously been reported, suggesting the possibility of a pleiotropic gene at this locus. RD has been previously associated with five genes in the region, particularly DCDC2 and KIAA0319. METHODS:To test whether these genes also contribute to ADHD, we investigated markers previously associated with RD for association with ADHD and ADHD symptoms in a sample of families with ADHD (n = 264). Markers were located in two subregions, VMP/DCDC2 and KIAA0319/TTRAP. RESULTS:Across all analyses conducted, strong evidence for association was observed in the VMP/DCDC2 region. Association was equally strong with symptoms of both inattention and hyperactivity/impulsivity, suggesting that this locus contributes to both symptom dimensions. Markers were also tested for association with measures of reading skills (word identification, decoding); however, there was virtually no overlap in the markers associated with ADHD and those associated with reading skills in this sample. CONCLUSIONS:Overall this study supports a previous linkage study of ADHD indicating a risk gene for ADHD on 6p and points to VMP or DCDC2 as the most likely candidates.

| S-EPMC5750043 | biostudies-literature

Phenoscape: Identifying Candidate Genes for Evolutionary Phenotypes.

Project description:Phenotypes resulting from mutations in genetic model organisms can help reveal candidate genes for evolutionarily important phenotypic changes in related taxa. Although testing candidate gene hypotheses experimentally in nonmodel organisms is typically difficult, ontology-driven information systems can help generate testable hypotheses about developmental processes in experimentally tractable organisms. Here, we tested candidate gene hypotheses suggested by expert use of the Phenoscape Knowledgebase, specifically looking for genes that are candidates responsible for evolutionarily interesting phenotypes in the ostariophysan fishes that bear resemblance to mutant phenotypes in zebrafish. For this, we searched ZFIN for genetic perturbations that result in either loss of basihyal element or loss of scales phenotypes, because these are the ancestral phenotypes observed in catfishes (Siluriformes). We tested the identified candidate genes by examining their endogenous expression patterns in the channel catfish, Ictalurus punctatus. The experimental results were consistent with the hypotheses that these features evolved through disruption in developmental pathways at, or upstream of, brpf1 and eda/edar for the ancestral losses of basihyal element and scales, respectively. These results demonstrate that ontological annotations of the phenotypic effects of genetic alterations in model organisms, when aggregated within a knowledgebase, can be used effectively to generate testable, and useful, hypotheses about evolutionary changes in morphology.

| S-EPMC4693980 | biostudies-literature

Genetics of sarcoidosis: candidate genes and genome scans.

Project description:Human leukocyte antigen class II allele associations and T-cell receptor beta chain bias in sarcoidosis suggest a specific disease-triggering antigen exposure in a genetically susceptible host. The cause of sarcoidosis has been elusive, but genetics provides one of the few promising avenues to further our understanding. We review the association studies and genome scans used to identify the genes involved in sarcoidosis.

| S-EPMC2647608 | biostudies-literature

The Influence of Dyslexia Candidate Genes on Reading Skill in Old Age.

Project description:A number of candidate genes for reading and language impairment have been replicated, primarily in samples of children with developmental disability or delay, although these genes are also supported in adolescent population samples. The present study used a systematic approach to test 14 of these candidate genes for association with reading assessed in late adulthood (two cohorts with mean ages of 70 and 79 years). Gene-sets (14 candidates, axon-guidance and neuron migration pathways) and individual SNPs within each gene of interest were tested for association using imputed data referenced to the 1000 genomes European panel. Using the results from the genome-wide association (GWA) meta-analysis of the two cohorts (N?=?1217), a competitive gene-set analysis showed that the candidate gene-set was associated with the reading index (p?=?.016) at a family wise error rate corrected significance level. Neither axon guidance nor neuron migration pathways were significant. Whereas individual SNP associations within CYP19A1, DYX1C1, CNTNAP2 and DIP2A genes (p?<?.05) did not reach corrected significance their allelic effects were in the same direction as past available reports. These results suggest that reading skill in normal adults shares the same genetic substrate as reading in adolescents, and clinically disordered reading, and highlights the utility of adult samples to increase sample sizes in the genetic study of developmental disorders.

| S-EPMC6097729 | biostudies-literature

A transcription map of the 6p22.3 reading disability locus identifying candidate genes.

Project description:Reading disability (RD) is a common syndrome with a large genetic component. Chromosome 6 has been identified in several linkage studies as playing a significant role. A more recent study identified a peak of transmission disequilibrium to marker JA04 (G72384) on chromosome 6p22.3, suggesting that a gene is located near this marker.In silico cloning was used to identify possible candidate genes located near the JA04 marker. The 2 million base pairs of sequence surrounding JA04 was downloaded and searched against the dbEST database to identify ESTs. In total, 623 ESTs from 80 different tissues were identified and assembled into 153 putative coding regions from 19 genes and 2 pseudogenes encoded near JA04. The identified genes were tested for their tissue specific expression by RT-PCR.In total, five possible candidate genes for RD and other diseases mapping to this region were identified.

| S-EPMC166143 | biostudies-literature

Predicting candidate genes from phenotypes, functions and anatomical site of expression.

Project description:MotivationOver the past years, many computational methods have been developed to incorporate information about phenotypes for disease-gene prioritization task. These methods generally compute the similarity between a patient's phenotypes and a database of gene-phenotype to find the most phenotypically similar match. The main limitation in these methods is their reliance on knowledge about phenotypes associated with particular genes, which is not complete in humans as well as in many model organisms, such as the mouse and fish. Information about functions of gene products and anatomical site of gene expression is available for more genes and can also be related to phenotypes through ontologies and machine-learning models.ResultsWe developed a novel graph-based machine-learning method for biomedical ontologies, which is able to exploit axioms in ontologies and other graph-structured data. Using our machine-learning method, we embed genes based on their associated phenotypes, functions of the gene products and anatomical location of gene expression. We then develop a machine-learning model to predict gene-disease associations based on the associations between genes and multiple biomedical ontologies, and this model significantly improves over state-of-the-art methods. Furthermore, we extend phenotype-based gene prioritization methods significantly to all genes, which are associated with phenotypes, functions or site of expression.Availability and implementationSoftware and data are available at https://github.com/bio-ontology-research-group/DL2Vec.Supplementary informationSupplementary data are available at Bioinformatics online.

| S-EPMC8248315 | biostudies-literature

Comorbidity of reading disabilities and ADHD: Structural and functional brain characteristics.

Project description:Reading disabilities (RD) and attention-deficit/hyperactivity disorder (ADHD) are two of the most common developmental disorders. RD and ADHD frequently co-occur, which raises questions about how the disorders interact and to what extent they can be differentiated. To date, the underlying neural mechanisms leading to RD-ADHD comorbidity (COM) are not understood. In this study, structural and functional magnetic resonance imaging (fMRI) were combined with comprehensive behavioral testing in order to characterize the behavior, brain structure, and neural correlates of executive function, phonological processing and reading fluency in 60 children with clinical diagnoses of RD, ADHD, or COM, and controls. Whole-brain analyses of variance were performed on cortical thickness values and on the data of the three fMRI tasks to investigate overall group differences. To validate these findings, a region of interest analysis was performed in regions that have previously been shown to exhibit group differences in children with RD or ADHD using the same paradigms. The neuroimaging results demonstrated structural and functional atypicalities for COM in regions that are frequently associated with deficits in children with isolated ADHD or RD. A combination of shared and distinctive brain alterations between the clinical groups was identified, supporting the multiple deficit model for ADHD, RD, and its comorbidity.

| S-EPMC6508987 | biostudies-literature

Rich-club structure contributes to individual variance of reading skills via feeder connections in children with reading disabilities.

Project description:The present work considers how connectome-wide differences in brain organization might distinguish good and poor readers. The connectome comprises a 'rich-club' organization in which a small number of hub regions play a focal role in assisting global communication across the whole brain. Prior work indicates that this rich-club structure is associated with typical and impaired cognitive function although no work so far has examined how this relates to skilled reading or its disorders. Here we investigated the rich-club structure of brain's white matter connectome and its relationship to reading subskills in 64 children with and without reading disabilities. Among three types of white matter connections, the strength of feeder connections that connect hub and non-hub nodes was significantly correlated with word reading efficiency and phonemic decoding. Phonemic decoding was also positively correlated with connectivity between connectome-wide hubs and nodes within the left-hemisphere reading network, as well as the local efficiency of the reading network. Exploratory analyses also identified sex differences indicating these effects were stronger in girls. This work highlights the independent roles of connectome-wide structure and the more narrowly-defined reading network in understanding the neural bases of skilled and impaired reading in children.

| S-EPMC8093404 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data