Evidence map›Paper›PMID 21207242›Full record

ArticleBehavior genetics2011

Genetic variation in the KIAA0319 5' region as a possible contributor to dyslexia.

Adrienne Elbert, Maureen W Lovett, Tasha Cate-Carter, Ashley Pitch, Elizabeth N Kerr, Cathy L Barr

Open access · greenAbstract read
In one paragraph

Article in Behavior genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 3 pooled it
3.2field-weighted citation impact, top 8% 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

25 citing papers in PubMed, 3 syntheses or guidelines pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. A family-based association analysis and meta-analysis of the reading disabilities candidate gene DYX1C1.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013
    Pooled it
  3. Pooled it
  4. Article
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  9. Neural Noise Hypothesis of Developmental Dyslexia.Trends in cognitive sciences · 2017
    Review
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  18. The effects of Kiaa0319 knockdown on cortical and subcortical anatomy in male rats.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2013
    Article
  19. Neocortical disruption and behavioral impairments in rats following in utero RNAi of candidate dyslexia risk gene Kiaa0319.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2012
    Article
  20. 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

6 authors at 2 institutions in 1 country.

Adrienne ElbertGenetics and Development Division, Toronto Western Research Institute, Toronto Western Hospital, University Health Network, MP14-302, 399 Bathurst Street, Toronto, ON M5T 2S8, Canada.
Maureen W Lovett
Tasha Cate-Carter
Ashley Pitch
Elizabeth N Kerr
Cathy L Barr
Hospital for Sick Children · CAUniversity Health Network · CA

Funding

CIHR 89855-1
6 · The paper itself

Abstract

Reading disabilities (RD) have been linked and associated with markers on chromosome 6p with results from multiple independent samples pointing to KIAA0319 as a risk gene and specifically, the 5' region of this gene. Here we focus genetic studies on a 2.3 kb region spanning the predicted promoter, the first untranslated exon, and part of the first intron, a region we identified as a region of open chromatin. Using DNA from probands with RD, we screened for genetic variants and tested select variants for association. We identified 17 DNA variants in this sample of probands, 16 of which were previously reported in public databases and one previously identified in a screen of this region. Based on the allele frequencies in the probands compared to public databases, and on possible functional consequences of the variation, we selected seven variants to test for association in a sample of families with RD, in addition to four variants which had been tested previously. We also tested two markers 5' of this region that were previously reported as associated. The strongest evidence for association was observed with alleles of the microsatellite marker located in the first untranslated exon and haplotypes of that marker. These results support previous studies indicating the 5' region of the KIAA0319 gene as the location of risk alleles contributing to RD.

Indexed as

Alleles5' Untranslated RegionsAdolescentChildChromosomes, Human, Pair 6DyslexiaFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenotypeHaplotypesHumansMaleMicrosatellite Repeats5' Untranslated RegionsKIAA0319 protein, humanNerve Tissue Proteins

Identifiers

PMID21207242
PMCPMC5469622
OpenAlexW1989466553

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.