Evidence map›Paper›PMID 27312598›Full record

SynthesisScientific reports2016

Association, characterisation and meta-analysis of SNPs linked to general reading ability in a German dyslexia case-control cohort.

Bent Müller, Arndt Wilcke, Ivonne Czepezauer, Peter Ahnert, Johannes Boltze, Holger Kirsten, LEGASCREEN consortium

Open access · goldAbstract readMeta-Analysis
In one paragraph

Synthesis in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
3.7field-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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Study of Genetic Association WithClinical practice and epidemiology in mental health : CP & EMH · 2017
    Article
  8. [Research advances in susceptible genes for developmental dyslexia in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016
    Review
  9. 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

7 authors at 4 institutions in 1 country.

Bent MüllerFraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Arndt WilckeFraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Ivonne CzepezauerFraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Peter AhnertInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Johannes BoltzeFraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
Holger KirstenFraunhofer Institute for Cell Therapy and Immunology, Leipzig, Germany.
LEGASCREEN consortium
Fraunhofer Institute for Cell Therapy and Immunology · DEMax Planck Institute for Human Cognitive and Brain Sciences · DELeipzig University · DEUniversity of Lübeck · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dyslexia is a severe disorder in the acquisition of reading and writing. Several studies investigated the role of genetics for reading, writing and spelling ability in the general population. However, many of the identified SNPs were not analysed in case-control cohorts. Here, we investigated SNPs previously linked to reading or spelling ability in the general population in a German case-control cohort. Furthermore, we characterised these SNPs for functional relevance with in silico methods and meta-analysed them with previous studies. A total of 16 SNPs within five genes were included. The total number of risk alleles was higher in cases than in controls. Three SNPs were nominally associated with dyslexia: rs7765678 within DCDC2, and rs2038137 and rs6935076 within KIAA0319. The relevance of rs2038137 and rs6935076 was further supported by the meta-analysis. Functional profiling included analysis of tissue-specific expression, annotations for regulatory elements and effects on gene expression levels (eQTLs). Thereby, we found molecular mechanistical implications for 13 of all 16 included SNPs. SNPs associated in our cohort showed stronger gene-specific eQTL effects than non-associated SNPs. In summary, our results validate SNPs previously linked to reading and spelling in the general population in dyslexics and provide insights into their putative molecular pathomechanisms.

Indexed as

Polymorphism, Single NucleotideCase-Control StudiesCohort StudiesDyslexiaFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGermanyHumansMaleMicrotubule-Associated ProteinsNerve Tissue ProteinsQuantitative Trait LociReadingDCDC2 protein, humanKIAA0319 protein, humanMicrotubule-Associated ProteinsNerve Tissue Proteins

Identifiers

PMID27312598
PMCPMC4911550
OpenAlexW2424958931

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.