Evidence map›Paper›PMID 11951179›Full record

ArticleAmerican journal of human genetics2002

Evidence for linkage and association with reading disability on 6p21.3-22.

D E Kaplan, J Gayán, J Ahn, T-W Won, D Pauls, R K Olson, J C DeFries, F Wood, B F Pennington, G P Page and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 2 pooled it
6.9field-weighted citation impact, top 3% 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

49 citing papers in PubMed, 2 syntheses or guidelines pooled it, 129 citations in OpenAlex.

  1. Association betweenJournal of genetics · 2019
    Pooled it
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  5. Review
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  8. Study of Genetic Association WithClinical practice and epidemiology in mental health : CP & EMH · 2017
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  19. Article
  20. Approach to epigenetic analysis in language disorders.Journal of neurodevelopmental disorders · 2011
    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

12 authors at 8 institutions in 2 countries.

D E KaplanYale Child Health Research Center, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520-8081, USA.
J Gayán
J Ahn
T-W Won
D Pauls
R K Olson
J C DeFries
F Wood
B F Pennington
G P Page
S D Smith
J R Gruen
Yale University · USUniversity of Colorado Boulder · USNeuroDevelopment Center · USUniversity of Alabama at Birmingham · USUniversity of Denver · USUniversity of Nebraska Medical Center · USUniversity of Oxford · GBWake Forest University · US

Funding

VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
Sex-specific analysis of opioid dependence GWAS and beyondR01DA012690 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2000 to 2017
$14.0M
GENETICS OF COCAINE DEPENDENCER01DA012849 · NIDA · YALE UNIVERSITY · PI GELERNTER, JOEL · 1999 to 2010
$11.5M
REGIONAL CEREBRAL BLOOD FLOW AND BEHAVIOR--ADULT AND SECOND GENERATION DYSLEXIAP01HD021887 · NICHD · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI WOOD, FRANK BALCH · 1986 to 2003
$4.5M
Discovery of the 6p21.3 Reading Disability GeneR01NS043530 · NINDS · YALE UNIVERSITY · PI GRUEN, JEFFREY R · 2003 to 2010
$4.3M
THE COGNITIVE PHENOTYPE IN FAMILIAL DYSLEXIAR01MH038820 · NIMH · UNIVERSITY OF DENVER · PI PENNINGTON, BRUCE F · 1985 to 2002
$1.3M
THE LINQUISTIC PHENOTYPE IN FAMILIA DYSLEXIAR37MH038820 · NIMH · UNIVERSITY OF DENVER · PI PENNINGTON, BRUCE F · 1988 to 1997
–
NICHD NIH HHS 2P01 HD21887-11NICHD NIH HHS P01 HD021887NICHD NIH HHS P50 HD027802NICHD NIH HHS P50 HD27802NICHD NIH HHS U01 HD98002NIDA NIH HHS R01 DA012690NIDA NIH HHS R01 DA012849NIDA NIH HHS R01 DA12690NIDA NIH HHS R01 DA12849NIMH NIH HHS MH38820NIMH NIH HHS R01 MH038820NIMH NIH HHS R37 MH038820NINDS NIH HHS R01 NS043530
6 · The paper itself

Abstract

Reading disability (RD), or dyslexia, is a common heterogeneous syndrome with a large genetic component. Several studies have consistently found evidence for a quantitative-trait locus (QTL) within the 17 Mb (14.9 cM) that span D6S109 and D6S291 on chromosome 6p21.3-22. To characterize further linkage to the QTL, to define more accurately the location and the effect size, and to identify a peak of association, we performed Haseman-Elston and DeFries-Fulker linkage analyses, as well as transmission/disequilibrium, total-association, and variance-components analyses, on 11 quantitative reading and language phenotypes. One hundred four families with RD were genotyped with a new panel of 29 markers that spans 9 Mb of this region. Linkage results varied widely in degree of statistical significance for the different linkage tests, but multipoint analysis suggested a peak near D6S461. The average 6p QTL heritability for the 11 reading and language phenotypes was 0.27, with a maximum of 0.66 for orthographic choice. Consistent with the region of linkage described by these studies and others, there was a peak of transmission disequilibrium with a QTL centered at JA04 (chi2=9.48; empirical P=.0033; orthographic choice), and there was strong evidence for total association at this same marker (chi2=11.49; P=.0007; orthographic choice). Although the boundaries of the peak could not be precisely defined, the most likely location of the QTL is within a 4-Mb region surrounding JA04.

Indexed as

Chromosome MappingAdolescentAllelesChildChromosomes, Human, Pair 6Diseases in TwinsDyslexiaGenetic MarkersGenotypeHumansLinkage DisequilibriumQuantitative Trait, HeritableTandem Repeat SequencesGenetic Markers

Identifiers

PMID11951179
PMCPMC447603
OpenAlexW2100715904

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.