Otosclerosis: association of COLIA1 Sp1 binding site polymorphism in Alexandria, Egypt

Background: Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is a complex genetic disease, caused by a combination of genetic and environmental factors. COL1A1 gene is one of the most important candidate genes in otosclerosis. A strong association has been described between otosclerosis and single nucleotide polymorphism in Sp1 binding site of the first intron of the COL1A1 gene.

Objective: Investigate the association between the G/T polymorphism at Sp1 binding site in the COL1A1 first intron and otosclerosis.

Methods: Polymerase chain reaction-based restriction enzyme analysis was applied to determine the polymorphic distribution of the Sp1 site in 160 patients with otosclerosis and 100 control subjects.

Results: This study showed a significant association between otosclerosis and the COL1A1 first intron Sp1 site. The T allele was 0.33 in the patients with otosclerosis and 0.18 in controls. This indicates a significant association between T allele and otosclerosis in Egyptian patients (p <0.0001).

Conclusion: The association of CL1A1 Sp1 binding site polymorphism with the risk of otosclerosis in an Egyptian population has been confirmed.