Association of COL1A1 polymorphism in Turkish patients with otosclerosis

Abstract Objective To evaluate the role of COL1A1 gene polymorphism in the etiology of otosclerosis. Material and Methods Peripheric blood samples are obtained from 28 patients diagnosed with otosclerosis and 50 control subjects. DNA’s of all samples are isolated and amplified by using the PCR technique. The products are restricted by appropriate enzymes and the allele distributions were compared. Results SS (homozygous normal), Ss (heterozygous mutant) and ss (homozygous mutant) alleles of the otosclerotic and control subjects were significantly different from each other. Conclusion Otosclerosis is a disease with progressive hearing loss. There are viral, hormonal, immunologic and genetic hypothesis of etiology. In this study, we concluded that the polymorphism seen in the COL1A1 gene resulting in production of excessive type 1 collagen, could play a role in the pathogenesis of otosclerosis.