American Journal of Otolaryngology. Available online 29 April 2013
Yavuz Selim Yıldırım, MDa, b, dryavuzselim at yahoo.com
Tayfun Apuhan, MD c,
Selma Düzenli, MD d,
Ali Osman Arslan, MD d
a Department of Otorhinolaryngology and Head and Neck Surgery, Bezmialem Vakif University, Faculty of Medicine, Istanbul
b Department of Otorhinolaryngology and Head and Neck Surgery, Haseki Training and Research Hospital, Istanbul
c Department of Ear Nose Throat Clinics, Abant Izzet Baysal University, Medical Faculty, Bolu, Turkey
d Department of Genetics, Abant Izzet Baysal University, Medical Faculty, Bolu, Turkey
Objective: The possible genetic relationship between otosclerosis and Vitamin D Receptor (VDR) gene polymorphism is uncertain.
The aim of this study is to assess association between otosclerosis and VDR gene polymorphisms.
Study Design Case–control Studies.
Setting Tertiary referral center.
Subjects and Methods Clinical diagnosis of stapes fixation was based on otoscopic, audiometric, tympanometric and surgical findings. We identified 25 eligible patient and 60 controls to investigate the association of the VDR gene polymorphisms FokI, BsmI, ApaI, and Taq I with otosclerosis. The patient and control DNA was genotyped for; VDR Bsm I (rs1544410), VDR Apa I (rs7975232), VDR Taq I (rs731236) and VDR Fok I (rs2228570) gene. Primer, simple probe sequences was genotyped by RT-PCR restriction fragment length polymorphism.
Results: There was a statistically significant association between VDR gene and otosclerosis in polymorphism Taq I, Apa I and Bsm I.
There was no significant association between VDR gene and otosclerosis in polymorphism Foq I.
Conclusion: Three polymorphisms (Taq I, Apa I and Bsm I) in the VDR gene appear to be associated to susceptibility to otosclerosis disorder with otosclerosis patients.
Highlights from Wikipedia April 2013
- This is an inherited disease
- Approximately 0.5% of the population will eventually be diagnosed with otosclerosis.
- Post mortem studies show that as many as 10% of people may have otosclerotic lesions of their temporal bone,
- Usually noticeable hearing loss begins at middle-age, but can start much sooner
- The hearing loss was long believed to grow worse during pregnancy, but recent research does not support this belief
- Comment by VitaminDWiki: pregnancy is typically associated with low vitamin D
- Otosclerosis is the commonest cause of progressive deafness in young adults
- A person with otosclerosis usually has speech which is quiet, while people with cochlear (or nerve) deafness usually speak loudly.
- The presence of extra background noise usually adds to the hearing difficulty of people with cochlear deafness, but in otosclerosis this confusion does not occur.
- A person with otosclerosis may even hear better in noisy surroundings, possibly because other people's voices are raised in frequency and loudness.
- Otosclerosis tends to affect the low frequencies as much as the high frequencies.
- Figures for improving or eliminating tinnitus are quoted at 78% or better. The risk of making the tinnitus worse is quoted at 6% or less.
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