期刊
OTOLOGY & NEUROTOLOGY
卷 25, 期 4, 页码 447-450出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00129492-200407000-00008
关键词
COL1A1; collagen; osteoporosis; otosclerosis; Sp1; transcription
资金
- NIDCD NIH HHS [R01 DC03401] Funding Source: Medline
Hypothesis: There is an association between otosclerosis and osteoporosis. Background: Both osteoporosis and otosclerosis are common bone diseases to which relatively large portions of the population are genetically predisposed. Recently, a strong association has been described between osteoporosis and an Sp1 binding site of putative functional significance in the first intron of the COLIA1 gene. Methods: We applied polymerase chain reaction-based restriction enzyme analysis to determine the polymorphic distribution of the Sp1 site in 100 patients with otosclerosis and 108 control subjects. Results: This study showed a significant association between otosclerosis and the COLIA1 first intron Sp1 site. The allelic frequency of the Sp1 site is very similar between otosclerosis and osteoporosis. Conclusion: Some cases of otosclerosis and osteoporosis could share a functionally significant polymorphism in the Sp1 transcription factor binding site in the first intron of the COLIA1 gene.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据