亚甲基四氢叶酸还原酶（MTHFR）和载脂蛋白E（ApoE）基因变异与突发性感音神经性听力损失的关联
MTHFR AND ApoE genetic variants association with sudden sensorineural hearing loss.
作者信息
Hamidi Armita Kakavand, Yazdani Nasrin, Seyedjavadi Kimia Haj, Ahrabi Nakisa Zarrabi, Tajdini Ardavan, Aghazadeh Keivan, Amoli Mahsa M
机构信息
Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Otorhinolaryngology Research Center, Amir-Alam Hospital, Department of Otolaryngology-Head and Neck Surgery, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Am J Otolaryngol. 2019 Mar-Apr;40(2):260-264. doi: 10.1016/j.amjoto.2018.10.015. Epub 2018 Oct 29.
HYPOTHESIS
Although the pathogenesis of sudden sensorineural hearing loss (SSNHL) is not clear, however several causes including genetic factors seems to be implicated. We hypothesized that common genetic variants might be involved in SSNHL.
BACKGROUND
SSNHL is known to be an idiopathic disease because the causative factors have not been identified. Several causes including genetic and viral infection besides immune system reaction, neurological disorders, medications, etc. have been previously reported. We examined the association between ApoE and MTHFR gene variants in SSNHL.
METHODS
This study includes case-control scheme encompassing a total of 177 individuals, include patients inflicted with SSNHL and healthy subjects as control group. Genotyping of MTHFR and ApoE variants was conducted by PCR - RFLP method.
RESULT
Our study showed that MTHFR rs1801133 allele frequency is significantly different between cases and controls. Also genotype distribution of ApoE was significantly different between patients and healthy controls.
CONCLUSIONS
MTHFR C677T and ApoE gene variant may be associated with sudden sensorineural hearing loss in an Iranian population.
假设
尽管突发性感音神经性听力损失（SSNHL）的发病机制尚不清楚，但包括遗传因素在内的多种病因似乎与之相关。我们推测常见的基因变异可能与SSNHL有关。
背景
由于尚未确定致病因素，SSNHL被认为是一种特发性疾病。此前已有报道称，包括遗传和病毒感染在内的多种病因，以及免疫系统反应、神经系统疾病、药物等。我们研究了SSNHL中载脂蛋白E（ApoE）和亚甲基四氢叶酸还原酶（MTHFR）基因变异之间的关联。
方法
本研究采用病例对照研究设计，共纳入177名个体，包括SSNHL患者和作为对照组的健康受试者。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对MTHFR和ApoE基因变异进行基因分型。
结果
我们的研究表明，病例组和对照组之间MTHFR rs1801133等位基因频率存在显著差异。此外，患者和健康对照组之间ApoE的基因型分布也存在显著差异。
结论
在伊朗人群中，MTHFR C677T和ApoE基因变异可能与突发性感音神经性听力损失有关。
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