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Article

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

Human genetics - 1 May 2018

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

Abstract excerpt

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....

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Topics

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Share to Bone Morphogenetic Protein 2
Share to Cell Adhesion Molecules, Neuronal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I

Share to Collagen Type I, alpha 1 Chain

Share to Fibroblast Growth Factor 2

Share to Otosclerosis

Share to Protein Phosphatase 2

Share to Reelin Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 29728750
DOI: 10.1007/s00439-018-1889-9
PMCID: PMC5973954

Genes

RELN
TGFB1
BMP2
FGF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.PMID 29728750Read ↗

Genetic association analysis in a clinically and histologically confirmed otosclerosis population confirms association with the TGFB1 gene but suggests an association of the RELN gene with a clinically indistinguishable otosclerosis-like phenotype.Semantic proximity Read ↗

Genome-wide Screen of Otosclerosis in Population Biobanks: 18 Loci and Shared Heritability with Skeletal StructureSemantic proximity Read ↗

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Semantic proximity Read ↗

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia.Semantic proximity Read ↗

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.Semantic proximity Read ↗

Genetics of OtosclerosisSemantic proximity Read ↗

The etiology of otosclerosis: a combination of genes and environment.Semantic proximity Read ↗

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.Semantic proximity Read ↗

Genetic association and gene expression profiles of TGFB1 and the contribution of TGFB1 to otosclerosis susceptibility.Semantic proximity Read ↗

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.Semantic proximity Read ↗

Association of bone morphogenetic proteins with otosclerosis.Semantic proximity Read ↗

The risks of RELN polymorphisms and its expression in the development of otosclerosis.Semantic proximity Read ↗

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