Related Experiment Video
Updated: Aug 23, 2026

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in
Laura Rodríguez1, Santiago Rodríguez, Juan Hermida
1Departamento de Genética, Universidad de Santiago, 15782 Santiago de Compostela, Spain.
Abstract:
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 a population-based case-control study. We report here an independent study of association between COL1A1 and COL1A2 gene polymorphisms and OTSC, in a case-control sample from a population of Caucasian individuals living in Northwest Spain. Specifically, we studied two COL1A1 polymorphisms previously reported to be associated with OTSC, and six COL1A2 polymorphisms. We performed diverse association analyses based on alleles, genotypes, and two-locus haplotypes. We found no evidence supporting the putative link of COL1A1 and COL1A2 genes with OTSC.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pleiotropy