<abstract xmlns="http://www.w3.org/1999/xhtml"> 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 &lt;0.0001).Conclusion: The association of CL1A1 Sp1 binding site polymorphism with the risk of otosclerosis in an Egyptian population has been confirmed.</abstract>

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.

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

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria 21526,

Asian Biomedicine

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Background: Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is a complex genetic disease,...

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

Article Category: Brief communication (Original)

Published Online: Feb 04, 2017

Page range: 747 - 752

DOI: https://doi.org/10.5372/1905-7415.0605.116

Keywords
COL1A1 gene, otosclerosis, Sp1 binding site

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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

Article Category: Brief communication (Original)

Published Online: Feb 04, 2017

Page range: 747 - 752

DOI: https://doi.org/10.5372/1905-7415.0605.116

KeywordsCOL1A1 gene, otosclerosis, Sp1 binding site

© 2017

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

Keywords
COL1A1 gene, otosclerosis, Sp1 binding site