Rodríguez Laura, Rodríguez Santiago, Hermida Juan, Frade Carlos, Sande Esther, Visedo Guillermo, Martín Carlos, Zapata Carlos
Departamento de Genética, Universidad de Santiago, 15782 Santiago de Compostela, Spain.
Am J Med Genet A. 2004 Jul 1;128A(1):19-22. doi: 10.1002/ajmg.a.30074.
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.
耳硬化症（OTSC）是白人成年人听力损失的最常见原因之一。编码I型胶原蛋白的COL1A1和COL1A2基因已被提出作为耳硬化症发病机制中的候选基因。最近一项基于人群的病例对照研究报告称COL1A1基因与该病有关联。我们在此报告一项关于COL1A1和COL1A2基因多态性与耳硬化症之间关联的独立研究，研究对象为来自西班牙西北部白种人群体的病例对照样本。具体而言，我们研究了先前报道的与耳硬化症相关的两种COL1A1多态性以及六种COL1A2多态性。我们基于等位基因、基因型和双位点单倍型进行了多种关联分析。我们没有发现证据支持COL1A1和COL1A2基因与耳硬化症之间的假定联系。
