Evidence map›Paper›PMID 15717286›Full record

ArticleAmerican journal of human genetics2005

Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.

Natalie Cope, Denise Harold, Gary Hill, Valentina Moskvina, Jim Stevenson, Peter Holmans, Michael J Owen, Michael C O'Donovan, Julie Williams

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 124 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
124citing papers in PubMed, 5 pooled it
26.2field-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

124 citing papers in PubMed, 5 syntheses or guidelines pooled it, 297 citations in OpenAlex.

  1. Pooled it
  2. Association betweenJournal of genetics · 2019
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  15. Animal models of developmental dyslexia.Frontiers in neuroscience · 2022
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64 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Natalie CopeDepartment of Psychological Medicine, Wales College of Medicine, Cardiff University, Cardiff, United Kingdom.
Denise Harold
Gary Hill
Valentina Moskvina
Jim Stevenson
Peter Holmans
Michael J Owen
Michael C O'Donovan
Julie Williams
Cardiff University · GBUniversity of Southampton · GBUniversity of Wales · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Linkage between developmental dyslexia (DD) and chromosome 6p has been replicated in a number of independent samples. Recent attempts to identify the gene responsible for the linkage have produced inconsistent evidence for association of DD with a number of genes in a 575-kb region of chromosome 6p22.2, including VMP, DCDC2, KIAA0319, TTRAP, and THEM2. We aimed to identify the specific gene or genes involved by performing a systematic, high-density (approximately 2-3-kb intervals) linkage disequilibrium screen of these genes in an independent sample, incorporating family-based and case-control designs in which dyslexia was defined as an extreme representation of reading disability. Using DNA pooling, we first observed evidence for association with 17 single-nucleotide polymorphisms (SNPs), 13 of which were located in the KIAA0319 gene (P<.01-.003). After redundant SNPs were excluded, 10 SNPs were individually genotyped in 223 subjects with DD and 273 controls. Those SNPs that were significant at P</=.05 were next genotyped in a semi-independent sample of 143 trios of probands with DD and their parents, to control for possible population stratification. Six SNPs showed significant evidence of association in both samples (P</=.04-.002), including a SNP (rs4504469) in exon 4 of the KIAA0319 gene that changes an amino acid (P=.002; odds ratio 1.5). Logistic regression analysis showed that two SNPs (rs4504469 and rs6935076) in the KIAA0319 gene best explained DD status. The haplotype composed of these two markers was significantly associated with DD (global P=.00001 in the case-control sample; P=.02 in trios). This finding was largely driven by underrepresentation of the most common haplotype in cases (P=.00003 in the case-control sample; P=.006 in trios; 1-degree-of-freedom tests). Our data strongly implicate KIAA0319 as a susceptibility gene for dyslexia. The gene product is expressed in brain, but its specific function is currently unknown.

Indexed as

Chromosomes, Human, Pair 6AdolescentChromosome MappingDyslexiaGenetic Predisposition to DiseaseHaplotypesHumansLinkage DisequilibriumNerve Tissue ProteinsPolymorphism, Single NucleotideKIAA0319 protein, humanNerve Tissue Proteins

Identifiers

PMID15717286
PMCPMC1199296
OpenAlexW1972062268

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.