Evidence map›Paper›PMID 15138886›Full record

ArticleHuman genetics2004

Refinement of the 6p21.3 quantitative trait locus influencing dyslexia: linkage and association analyses.

Karen E Deffenbacher, Judith B Kenyon, Denise M Hoover, Richard K Olson, Bruce F Pennington, John C DeFries, Shelley D Smith

Abstract readTwin Study
PubMed Publisher
In one paragraph

Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
65citing papers in PubMed, 1 pooled it
14.3field-weighted citation impact, top 1% 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

65 citing papers in PubMed, 1 synthesis or guideline pooled it, 150 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Dyslexia associated geneFrontiers in cell and developmental biology · 2022
    Article
  4. Review
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Study of Genetic Association WithClinical practice and epidemiology in mental health : CP & EMH · 2017
    Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. The DCDC2/intron 2 deletion and white matter disorganization: focus on developmental dyslexia.Cortex; a journal devoted to the study of the nervous system and behavior · 2014
    Article
  18. Article
  19. Article
  20. Article

5 more citing papers are in PubMed but not listed here.

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

7 authors at 4 institutions in 1 country.

Karen E DeffenbacherCenter for Human Molecular Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, NE Medical Center MMI Rm. 3085, Omaha, NE 68198-5455, USA. kdeffenb@unmc.edu
Judith B Kenyon
Denise M Hoover
Richard K Olson
Bruce F Pennington
John C DeFries
Shelley D Smith
Nebraska Medical Center · USUniversity of Colorado Boulder · USUniversity of Nebraska Medical Center · USUniversity of Denver · US

Funding

VALIDITY OF SUBTYPES OF ADHDP50HD027802 · NICHD · UNIVERSITY OF COLORADO AT BOULDER · PI ERIK G WILLCUTT · 1990 to 2026
$44.9M
X-LINKED EXTENSION OF THE REVISED HASEMAN-ELSTON ALGORITHM FOR LINKAGE ANALYSISP41RR003655 · NCRR · LOUISIANA STATE UNIV HSC NEW ORLEANS · PI ELSTON, ROBERT C. · 1987 to 2011
$11.5M
IDENTIFICATION OF GENES INFLUENCING DYSLEXIAR01HD034812 · NICHD · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI SMITH, SHELLEY D. · 1998 to 2001
$724k
NCRR NIH HHS 1P41 RR03655NICHD NIH HHS 5P50 HD27802-12NICHD NIH HHS 5R01 HD34812
6 · The paper itself

Abstract

Reading disability (RD), or dyslexia, is the most common learning disability with a prevalence rate of ~5%-10% in school-age children. RD is highly heritable with evidence of a neurobiological origin. Linkage studies have identified several quantitative trait loci (QTLs) for RD. The QTL on chromosome 6p21.3 has been independently replicated by several groups and spans a 16.4-Mb (13.8 cM) interval from D6S109 to D6S291. In this study, we performed sib-pair linkage analyses with Haseman-Elston and DeFries-Fulker methods to define more accurately the QTL interval. Linkage was assessed by using five quantitative phenotypes, including a composite measure of reading performance and four component phenotypes. When probands were selected for severe scores, single- and multi-point analyses showed significant linkage with all five phenotypes, converging over an interval of ~3.24 Mb spanning D6S1597 to D6S1571. Maximal linkage converged at marker D6S1554 across phenotypes. Out of 12 genes in the linkage interval, ten clustered within ~680 kb and were selected for association analysis based on central nervous system expression and putative function. Marker-trait associations were assessed by using QTDT (a general test of association for quantitative traits) and the family-based association test (FBAT), and haplotype analysis was performed by using FBAT and the GeneHunter Transmission/Disequilibrium Test TDT. Marker associations were detected in five of the ten genes, results that were corroborated by our haplotype TDT analysis. The results of the association study have thereby allowed us to significantly reduce the number of possible candidate genes and to prioritize genes for further mutation screening.

Indexed as

Chromosomes, Human, Pair 6Quantitative Trait LociAdolescentAdultAssociationChildDyslexiaGenetic LinkageGenetic MarkersHaplotypesHumansLinkage DisequilibriumGenetic Markers

Identifiers

PMID15138886
OpenAlexW2143309381

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.