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Article

Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain.

American journal of medical genetics. Part A - 1 Jul 2004

Rodríguez Laura, Rodríguez Santiago, Hermida Juan, Frade Carlos, Sande Esther, Visedo Guillermo, Martín Carlos, Zapata Carlos

Abstract excerpt

Otosclerosis (OTSC) is one of the most common causes of hearing loss in white adults. The COL1A1 and COL1A2 genes coding for type-I collagen have been proposed as candidate genes in the development of OTSC. The COL1A1 gene was recently reported to be associated with the condition on the basis of...

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Source

Identifiers

PMID: 15211650
DOI: 10.1002/ajmg.a.30074

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15211650-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain.PMID 15211650Read ↗

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Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis.Semantic proximity Read ↗

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

Association of COL1A1 and otosclerosis: evidence for a shared genetic etiology with mild osteogenesis imperfecta.Semantic proximity Read ↗

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.Semantic proximity Read ↗

Evaluation of the Genetic Association and mRNA Expression of the COL1A1, BMP2, and BMP4 Genes in the Development of Otosclerosis.Semantic proximity Read ↗

The aetiology of otosclerosis: a review of the literatureSemantic proximity Read ↗

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype.Semantic proximity Read ↗

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