Association of COL1A1 polymorphism in Turkish patients with otosclerosis

被引：7
|
作者：
Ertugay, Omer Cagatay [1 ]
Ata, Pinar [2 ]
Ertugay, Cigdem Kalaycik [3 ]
Kaya, Kerem Sami [4 ]
Tatlipinar, Arzu [5 ]
Kulekci, Semra [6 ]
机构：
[1] Zile State Hosp, Dept Otorhinolaryngol Head & Neck Surg, Tokat, Turkey
[2] Haydarpasa Numune Res & Educ Hosp, Genet Dis & Diag Ctr, Istanbul, Turkey
[3] Tokat State Hosp, Dept Otorhinolaryngol Head & Neck Surg, Tokat, Turkey
[4] Malazgirt State Hosp, Dept Otorhinolaryngol Head & Neck Surg, Mus, Turkey
[5] Haydarpasa Numune Res & Educ Hosp, Dept Otorhinolaryngol Head & Neck Surg, Istanbul, Turkey
[6] Dumlupinar Univ, Kutahya Evliya Celebi Res & Educ Hosp, Dept Otorhinolaryngol Head & Neck Surg, Kutahya, Turkey
来源：
AMERICAN JOURNAL OF OTOLARYNGOLOGY | 2013年 / 34卷 / 05期
关键词：
OSTEOGENESIS-IMPERFECTA; STAPEDECTOMY; TINNITUS; ETIOLOGY;
D O I：
10.1016/j.amjoto.2013.02.001
中图分类号：
R76 [耳鼻咽喉科学];
学科分类号：
100213 ;
摘要：
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. (C) 2013 Elsevier Inc. All rights reserved.
引用
收藏
页码：403 / 406
页数：4
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