Department of Otorhinolaryngology and Head and Neck Surgery, Bezmialem Vakif University, Faculty of Medicine, Istanbul, Turkey.
Am J Otolaryngol. 2013 Sep-Oct;34(5):454-7. doi: 10.1016/j.amjoto.2013.03.016. Epub 2013 Apr 29.
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.
Case-control Studies.
Tertiary referral center.
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.
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.
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.
耳硬化症与维生素 D 受体（VDR）基因多态性之间的遗传关系尚不确定。本研究旨在评估耳硬化症与 VDR 基因多态性之间的关联。
病例对照研究。
三级转诊中心。
根据耳镜、听力、鼓室压和手术结果，对镫骨固定的临床诊断进行评估。我们鉴定了 25 名符合条件的患者和 60 名对照者，以研究 VDR 基因多态性 FokI、BsmI、ApaI 和 TaqI 与耳硬化症的关系。患者和对照者的 DNA 进行了 VDR BsmI(rs1544410)、VDR ApaI(rs7975232)、VDR TaqI(rs731236)和 VDR FokI(rs2228570)基因的基因分型。引物、简单探针序列通过 RT-PCR 限制性片段长度多态性进行基因分型。
VDR 基因与 TaqI、ApaI 和 BsmI 多态性与耳硬化症之间存在统计学显著关联。VDR 基因与 FokI 多态性与耳硬化症之间无显著关联。
VDR 基因中的三个多态性（TaqI、ApaI 和 BsmI）似乎与耳硬化症患者的耳硬化症易感性有关。
