Evidence map›Paper›PMID 24509779›Full record

ArticleHuman genetics2014

Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ.

John D Eicher, Natalie R Powers, Laura L Miller, Kathryn L Mueller, Sara Mascheretti, Cecilia Marino, Erik G Willcutt, John C DeFries, Richard K Olson, Shelley D Smith and 4 more

Open access · hybridAbstract read
In one paragraph

Article in Human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 2 pooled it
4.4field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
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  11. Article
  12. Neuropsychology of Learning Disabilities: The Past and the Future.Journal of the International Neuropsychological Society : JINS · 2017
    Review
  13. Study of Genetic Association WithClinical practice and epidemiology in mental health : CP & EMH · 2017
    Article
  14. [Research advances in susceptible genes for developmental dyslexia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016
    Review
  15. Article
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  20. DCDC2 polymorphism is associated with left temporoparietal gray and white matter structures during development.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 9 institutions in 5 countries.

John D EicherDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA, john.eicher@yale.edu.
Natalie R Powers
Laura L Miller
Kathryn L Mueller
Sara Mascheretti
Cecilia Marino
Erik G Willcutt
John C DeFries
Richard K Olson
Shelley D Smith
Bruce F Pennington
J Bruce Tomblin
Susan M Ring
Jeffrey R Gruen
Yale University · USInstitute for Behavioral Medicine · USUniversity of Bristol · GBUniversity of Iowa · USIRCCS Eugenio Medea · ITUniversité Laval · CAUniversity of Colorado Boulder · USUniversity of Denver · USUniversity of Nebraska Medical Center · US

Funding

VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
Yale University Clinical and Translational Science Award ProgramUL1TR000142 · NCATS · YALE UNIVERSITY · PI SHERWIN, ROBERT S · 2012 to 2015
$31.8M
Skill Development for Diverse Scientific Careers: A New Course Predoctoral Program in Cellular and Molecular BiologyT32GM007223 · NIGMS · YALE UNIVERSITY · PI BASERGA, SUSAN J · 1985 to 2019
$31.0M
Discovery of the 6p21.3 Reading Disability GeneR01NS043530 · NINDS · YALE UNIVERSITY · PI GRUEN, JEFFREY R · 2003 to 2010
$4.3M
Etiology and Neuropsychology of Math, Reading, ADHD, and their CovariationR01HD068728 · NICHD · UNIVERSITY OF COLORADO · PI PETRILL, STEPHEN A., WILLCUTT, ERIK G · 2011 to 2015
$3.0M
Etiology of Reading Disabilities and Comorbid ADHDR01HD047264 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI WILLCUTT, ERIK G · 2005 to 2009
$2.7M
Pleiotropic Roles of Dyslexia Genes in Neurodevelopmental Language ImpairmentsF31DC012270 · NIDCD · YALE UNIVERSITY · PI EICHER, JOHN · 2011 to 2013
$121k
Medical Research Council MC_PC_15018NCATS NIH HHS UL1 TR000142NICHD NIH HHS P50 HD027802NICHD NIH HHS R01 HD047264NICHD NIH HHS R01 HD068728NIDCD NIH HHS F31 DC012270NIGMS NIH HHS T32 GM007223NINDS NIH HHS R01 NS043530Wellcome Trust 092731Wellcome Trust 102215
6 · The paper itself

Abstract

Reading disability (RD) and language impairment (LI) are common neurodevelopmental disorders with moderately strong genetic components and lifelong implications. RD and LI are marked by unexpected difficulty acquiring and processing written and verbal language, respectively, despite adequate opportunity and instruction. RD and LI-and their associated deficits-are complex, multifactorial, and often comorbid. Genetic studies have repeatedly implicated the DYX2 locus, specifically the genes DCDC2 and KIAA0319, in RD, with recent studies suggesting they also influence LI, verbal language, and cognition. Here, we characterize the relationship of the DYX2 locus with RD, LI, and IQ. To accomplish this, we developed a marker panel densely covering the 1.4 Mb DYX2 locus and assessed association with reading, language, and IQ measures in subjects from the Avon Longitudinal Study of Parents and Children. We then replicated associations in three independent, disorder-selected cohorts. As expected, there were associations with known RD risk genes KIAA0319 and DCDC2. In addition, we implicated markers in or near other DYX2 genes, including TDP2, ACOT13, C6orf62, FAM65B, and CMAHP. However, the LD structure of the locus suggests that associations within TDP2, ACOT13, and C6orf62 are capturing a previously reported risk variant in KIAA0319. Our results further substantiate the candidacy of KIAA0319 and DCDC2 as major effector genes in DYX2, while proposing FAM65B and CMAHP as new DYX2 candidate genes. Association of DYX2 with multiple neurobehavioral traits suggests risk variants have functional consequences affecting multiple neurological processes. Future studies should dissect these functional, possibly interactive relationships of DYX2 candidate genes.

Indexed as

Cell Adhesion MoleculesChildChromosomes, Human, Pair 6ColoradoDNA-Binding ProteinsDyslexiaGenetic LociGenotypeHaplotypesHumansIntelligence TestsIowaItalyLanguage DisordersLinkage DisequilibriumLongitudinal StudiesACOT13 protein, humanCell Adhesion MoleculesDCDC2 protein, humanDNA-Binding ProteinsKIAA0319 protein, humanMicrotubule-Associated ProteinsNerve Tissue ProteinsNuclear ProteinsPhosphoric Diester HydrolasesProteinsRIPOR2 protein, humanTDP2 protein, humanThiolester HydrolasesTranscription Factors

Identifiers

PMID24509779
PMCPMC4053598
OpenAlexW2062284128

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.