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内皮型一氧化氮合酶基因Glu298Asp变异体增加突发性感音神经性听力损失的风险。

eNOS gene Glu298Asp variant confer risk in sudden sensorineural hearing loss.

作者信息

Yazdani Nasrin, Kakavand Hamidi Armita, Soroush Negin, Jalili Neda, Vahidi Aida, Zarabi Ahrabi Nakisa, Tajdini Ardavan, Amoli Mahsa

机构信息

a Department of Otolaryngology-Head and Neck Surgery, Otorhinolaryngology Research Center, Amir-Alam Hospital , Tehran University of Medical Sciences , Tehran , Iran.

b Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute , Tehran University of Medical Sciences , Tehran , Iran.

出版信息

Acta Otolaryngol. 2018 Oct;138(10):904-908. doi: 10.1080/00016489.2018.1497806. Epub 2018 Oct 24.

DOI:10.1080/00016489.2018.1497806
PMID:30354859
Abstract

BACKGROUND

Sudden sensorineural hearing loss (SSNHL) causes the loss of hearing of 30 dB or greater on at least three contiguous frequencies. It is known to be a multifactorial disease which the exact cause is unknown, rendering it as an idiopathic disorder of patients.

AIMS/OBJECTIVES: This study aims to shed further light on pathogenesis of this disease by studying the association between eNOS gene Glu298Asp polymorphism and VDR gene FokI polymorphism with SSNHL in Iranian population.

MATERIAL AND METHODS

This study involves a total of 77 cases and 100 controls, with patients inflicted with SSNHL categorized in case group and healthy subjects as control group. Genotyping of the VDR and eNOS genes was conducted by the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) method.

RESULTS

Our results showed a statistically significant association between genotype frequencies of eNOS gene Glu298Asp polymorphism in case group compared to healthy individuals in the control group (p = .01). Also, TT genotype was significantly the most prevalent genotype in case group in comparison to control group (TT vs GT + GG, OR = 3.5; 95% CI = 1.18-11.79). On the other hand, analysis of VDR gene FokI polymorphism frequencies showed no statistically significant association with SSNHL.

CONCLUSIONS AND SIGNIFICANCE

Our findings showed a significant association between the eNOS gene Glu298Asp polymorphism and SSNHL in the Iranian population; and "TT" genotype might be considered as a risk factor for SSNHL.

摘要

背景

突发性感音神经性听力损失(SSNHL)导致至少三个连续频率的听力损失30分贝或更高。已知这是一种多因素疾病,确切病因不明,使其成为患者的特发性疾病。

目的

本研究旨在通过研究伊朗人群中eNOS基因Glu298Asp多态性和VDR基因FokI多态性与SSNHL之间的关联,进一步阐明该疾病的发病机制。

材料与方法

本研究共涉及77例病例和100例对照,患有SSNHL的患者归入病例组,健康受试者作为对照组。采用聚合酶链反应和限制性片段长度多态性(PCR-RFLP)方法对VDR和eNOS基因进行基因分型。

结果

我们的结果显示,与对照组中的健康个体相比,病例组中eNOS基因Glu298Asp多态性的基因型频率存在统计学上的显著关联(p = 0.01)。此外,与对照组相比,TT基因型在病例组中明显是最常见的基因型(TT与GT + GG相比,OR = 3.5;95% CI = 1.18 - 11.79)。另一方面,VDR基因FokI多态性频率分析显示与SSNHL无统计学上的显著关联。

结论与意义

我们的研究结果表明,伊朗人群中eNOS基因Glu298Asp多态性与SSNHL之间存在显著关联;“TT”基因型可能被视为SSNHL的一个危险因素。

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