Association of otosclerosis with Sp1 binding site polymorphism in COL1A1 gene: Evidence for a shared genetic etiology with osteoporosis

Michael J. McKenna, Anh T. Nguyen-Huynh, Arthur G. Kristiansen

Research output: Contribution to journalArticle

33 Scopus citations

Abstract

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 COL1A1 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 COL1A1 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 COL1A1 gene.

Original languageEnglish (US)
Pages (from-to)447-450
Number of pages4
JournalOtology and Neurotology
Volume25
Issue number4
DOIs
StatePublished - Jul 1 2004

Keywords

  • COL1A1
  • Collagen
  • Osteoporosis
  • Otosclerosis
  • Sp1
  • Transcription

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Sensory Systems
  • Clinical Neurology

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