Evidence map›Paper›PMID 29728750›Full record

ArticleHuman genetics2018

Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

Andrew J Mowat, Michael Crompton, Joanna L Ziff, Christopher P Aldren, Jeremy A Lavy, Shakeel R Saeed, Sally J Dawson

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed, 3 pooled it
1.1field-weighted citation impact, top 22% 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

10 citing papers in PubMed, 3 syntheses or guidelines pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Exploring the genetic landscape of otosclerosis: current understanding and future perspectives.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2025
    Review
  5. Review
  6. Analysis of major otosclerosis-associated variants inArchives of medical science : AMS · 2024
    Article
  7. Article
  8. Article
  9. Review
  10. 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.

Andrew J MowatUCL Ear Institute, University College London, London, WC1X 8EE, UK.
Michael CromptonUCL Ear Institute, University College London, London, WC1X 8EE, UK.
Joanna L ZiffUCL Ear Institute, University College London, London, WC1X 8EE, UK.
Christopher P AldrenDepartment of ENT Surgery, The Princess Margaret Hospital, Windsor, SL4 3SJ, UK.
Jeremy A LavyRoyal National Throat Nose and Ear Hospital, London, WC1X 8EE, UK.
Shakeel R SaeedUCL Ear Institute, University College London, London, WC1X 8EE, UK.
Sally J DawsonUCL Ear Institute, University College London, London, WC1X 8EE, UK. sally.dawson@ucl.ac.uk.ORCID http://orcid.org/0000-0002-4421-2043
University College London · GBRoyal National Throat Nose and Ear Hospital · GBBMI The Princess Margaret Hospital · GBEnergy Institute · GB

Funding

RNID 512
6 · The paper itself

Abstract

Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes in which an association has been reported include BMP2, COL1A1, FGF2, PPP2R5B and TGFB1. However, follow up studies have often failed to replicate initial positive results. The aim of this study was to establish if an association exists between eight single nucleotide polymorphisms (SNPs) in these six previously implicated genes and otosclerosis in a British case-control cohort (n = 748). Evidence of an association between rs1800472 in TGFB1 and otosclerosis was found (p = 0.034), this association was strongest amongst non-familial cases (p = 0.011). No evidence of an association was detected with variants in COL1A1, FGF2, BMP2, and PPP2R5B. No association between variation in RELN and otosclerosis was observed in the whole cohort. However, a significant association (p = 0.0057) was detected between one RELN SNP (rs39399) and otosclerosis in familial patients. Additionally, we identify expression of one RELN transcript in 51 of 81 human stapes tested, clarifying previous conflicting data as to whether RELN is expressed in the affected tissue. Our findings strengthen the association of TGFB1 (rs1800472) with otosclerosis and support a relationship between RELN and familial otosclerosis only, which may explain previous variable replications.

Indexed as

Genetic Association StudiesBone Morphogenetic Protein 2Cell Adhesion Molecules, NeuronalCollagen Type ICollagen Type I, alpha 1 ChainExtracellular Matrix ProteinsFemaleFibroblast Growth Factor 2Gene Expression RegulationGenetic Predisposition to DiseaseGenotypeHumansMaleMembrane ProteinsNerve Tissue ProteinsOtosclerosisBMP2 protein, humanBone Morphogenetic Protein 2Cell Adhesion Molecules, NeuronalCollagen Type ICollagen Type I, alpha 1 ChainExtracellular Matrix ProteinsFibroblast Growth Factor 2Membrane ProteinsNerve Tissue ProteinsPPP2R5B protein, humanProtein Phosphatase 2Reelin ProteinRELN protein, humanSerine EndopeptidasesTGFB1 protein, humanTransforming Growth Factor beta1

Identifiers

PMID29728750
PMCPMC5973954
OpenAlexW2799569629

What OpenQuestion holds

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Registered trials

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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.