Kitoh Ryosuke, Nishio Shin-Ya, Ogawa Kaoru, Okamoto Makito, Kitamura Ken, Gyo Kiyofumi, Sato Hiroaki, Nakashima Tsutomu, Fukuda Satoshi, Fukushima Kunihiro, Hara Akira, Yamasoba Tatsuya, Usami Shin-Ichi
a Department of Otorhinolaryngology , Shinshu University School of Medicine , Matsumoto , Nagano , Japan ;
b Department of Otorhinolaryngology Head and Neck Surgery , Keio University School of Medicine , Tokyo , Japan ;
Acta Otolaryngol. 2016;136(5):465-9. doi: 10.3109/00016489.2015.1116047. Epub 2016 Feb 16.
The results suggest that SOD1 rs4998557 could be associated with susceptibility to SSNHL in the Japanese population.
To assess the gene association with sudden sensorineural hearing loss (SSNHL).
A two-stage case control study was conducted to explore the relationship of the candidate genes to SSNHL. The 192 gene samples from SSNHL patients registered in the intractable inner ear disease gene bank were enrolled. As the candidate genes, 39 SNPs from 31 genes were selected for the first stage study. The second stage study examined whether the SOD1 gene polymorphisms, defined by significant differences between cases and controls in the first stage study, are associated with SSNHL.
Significant differences were observed in four SNPs from three genes, Glutathione-S-transferase pai 1 (GSTP1), proteine kinase C heta (PRKCH), and superoxide dismutase 1 (SOD1), in terms of allele frequency between SSNHL patients and HapMap controls. In the SOD1 gene, a significant difference was observed in the dominant model study of the SNP rs4998557 in the second stage study. Furthermore, as a result of dividing SSNHL patients based on the clinical data, the difference was more apparent in the case of the over 60 dB group and the tinnitus-positive group.
结果表明,在日本人群中,超氧化物歧化酶1(SOD1)基因的rs4998557位点可能与特发性突聋易感性相关。
评估基因与特发性突聋(SSNHL)的相关性。
开展一项两阶段病例对照研究,以探究候选基因与特发性突聋之间的关系。纳入了难治性内耳疾病基因库中登记的192例特发性突聋患者的基因样本。作为候选基因,在第一阶段研究中选择了来自31个基因的39个单核苷酸多态性(SNP)。第二阶段研究检验了在第一阶段研究中病例组和对照组之间存在显著差异的SOD1基因多态性是否与特发性突聋相关。
在谷胱甘肽-S-转移酶π1(GSTP1)、蛋白激酶Cθ(PRKCH)和超氧化物歧化酶1(SOD1)这三个基因的四个SNP的等位基因频率方面,特发性突聋患者与国际人类基因组单体型图计划(HapMap)对照组之间观察到显著差异。在第二阶段研究中,对于SOD1基因的SNP rs4998557的显性模型研究观察到显著差异。此外,根据临床数据对特发性突聋患者进行分组后,在听力损失超过60分贝组和耳鸣阳性组中差异更为明显。