title: Otosclerosis and vitamin D receptor gene polymorphism.
abstract: 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.
  
  
  METHODS
  Case-control Studies.
  
  
  METHODS
  Tertiary referral center.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Otorhinolaryngology and Head and Neck Surgery, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey. dryavuzselim@yahoo.com
authors: Yavuz Selim
authors: YS
authors: Yıldırım
authors: Tayfun
authors: T
authors: Apuhan
authors: Selma
authors: S
authors: Düzenli
authors: Ali Osman
authors: AO
authors: Arslan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006309:Hearing; D006801:Humans; D008297:Male; D008875:Middle Aged; D010040:Otosclerosis / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000378:metabolism; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol; D004247:DNA