Otosclerosis and vitamin D receptor gene polymorphism

ObjectiveThe 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 DesignCase–control Studies.SettingTertiary referral center.Subjects and MethodsClinical 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.ResultsThere 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.ConclusionThree polymorphisms (Taq I, Apa I and Bsm I) in the VDR gene appear to be associated to susceptibility to otosclerosis disorder with otosclerosis patients.