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Article

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

Human genetics - 1 Feb 2010

Schrauwen Isabelle, Ealy Megan, Fransen Erik, Vanderstraeten Kathleen, Thys Melissa, Meyer Nicole C, Cosgarea Marcel, Huber Alex, Mazzoli Manuela, Pfister Markus, Smith Richard J H, Van Camp Guy

Abstract excerpt

Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In a previous study, we identified a region on chr7q22.1 located in the RELN gene that is associated with otosclerosis in Belgian-Dutch and French populations. Evidence for allelic heterogeneity was found in this...

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Source

Identifiers

PMID: 19847460
DOI: 10.1007/s00439-009-0754-2

Genes

RELN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.PMID 19847460Read ↗

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

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

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

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

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

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

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 ↗

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

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis.Semantic proximity Read ↗

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysisSemantic proximity Read ↗

The rs39335 polymorphism of the RELN gene is not associated with otosclerosis in a southern Italian population.Semantic proximity Read ↗

Otosclerosis: From Genetics to Molecular Biology.Semantic proximity Read ↗

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