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梅尼埃病中人类钾通道KCNE基因家族的多态性分析——一项初步研究

The Polymorphic Analysis of the Human Potassium Channel KCNE Gene Family in Meniere's Disease-A Preliminary Study.

作者信息

Dai Qingqing, Wang Dan, Zheng Hong

机构信息

Department of Otolaryngology, Sichuan University, West China Hospital, Chengdu, Sichuan, China.

出版信息

J Int Adv Otol. 2019 Apr;15(1):130-134. doi: 10.5152/iao.2019.5076.

DOI:10.5152/iao.2019.5076
PMID:31058602
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6483437/
Abstract

OBJECTIVES

To investigate the correlation between KCNE gene family and Meniere's disease (MD) in the Chinese population.

MATERIALS AND METHODS

This study analyzed the single-nucleotide polymorphism (SNP) of KCNE1 and KCNE3 genes between the MD group and the control group and between the familial Meniere's disease (FMD) group and the sporadic Meniere's disease (SMD) group.

RESULTS

A total of 653 C/T SNPs of KCNE1 had a statistical difference between the FMD and SMD groups (p=0.0082<0.05); 492 A/C SNPs of KCNE3 were statistically different between the FMD group and the control group (genotype p=0.037<0.05 and allele p=0.006<0.05).

CONCLUSION

SNPs of KCNE1 and KCNE3 gene mutations were, respectively, different between the SMD and FMD groups. KCNE3 gene polymorphism was key to FMD disease, whereas KCNE1 was more important to the onset of SMD.

摘要

目的

研究中国人群中KCNE基因家族与梅尼埃病(MD)之间的相关性。

材料与方法

本研究分析了MD组与对照组之间以及家族性梅尼埃病(FMD)组与散发性梅尼埃病(SMD)组之间KCNE1和KCNE3基因的单核苷酸多态性(SNP)。

结果

KCNE1的653个C/T SNP在FMD组和SMD组之间存在统计学差异(p = 0.0082<0.05);KCNE3的492个A/C SNP在FMD组与对照组之间存在统计学差异(基因型p = 0.037<0.05,等位基因p = 0.006<0.05)。

结论

KCNE1和KCNE3基因的SNP在SMD组和FMD组之间分别存在差异。KCNE3基因多态性是FMD疾病的关键,而KCNE1对SMD的发病更为重要。

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The Polymorphic Analysis of the Human Potassium Channel KCNE Gene Family in Meniere's Disease-A Preliminary Study.梅尼埃病中人类钾通道KCNE基因家族的多态性分析——一项初步研究
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本文引用的文献

1
Diagnostic criteria for Menière's disease.梅尼埃病的诊断标准。
J Vestib Res. 2015;25(1):1-7. doi: 10.3233/VES-150549.
2
Identification of two novel mutations in FAM136A and DTNA genes in autosomal-dominant familial Meniere's disease.常染色体显性遗传性梅尼埃病中FAM136A和DTNA基因两个新突变的鉴定
Hum Mol Genet. 2015 Feb 15;24(4):1119-26. doi: 10.1093/hmg/ddu524. Epub 2014 Oct 9.
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Familial clustering and genetic heterogeneity in Meniere's disease.梅尼埃病的家族聚集性和遗传异质性。
Clin Genet. 2014 Mar;85(3):245-52. doi: 10.1111/cge.12150. Epub 2013 Apr 9.
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A replication study on proposed candidate genes in Ménière's disease, and a review of the current status of genetic studies.梅尼埃病候选基因的复制研究及遗传研究现状综述
Int J Audiol. 2012 Nov;51(11):841-5. doi: 10.3109/14992027.2012.705900. Epub 2012 Aug 30.
5
Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.慢性耳鸣患者电压门控钾通道亚基 KCNE3 基因的深度重测序。
Behav Brain Funct. 2011 Sep 7;7:39. doi: 10.1186/1744-9081-7-39.
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Genetic aspects of familial Ménière's disease.家族性梅尼埃病的遗传学方面。
Otol Neurotol. 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a.
7
Finnish familial Meniere disease is not linked to chromosome 12p12.3, and anticipation and cosegregation with migraine are not common findings.芬兰家族性梅尼埃病与 12p12.3 无关,与偏头痛的预期和共分离也不常见。
Genet Med. 2011 May;13(5):415-20. doi: 10.1097/GIM.0b013e3182091a41.
8
Genetic investigations of Meniere's disease.梅尼埃病的遗传学研究。
Otolaryngol Clin North Am. 2010 Oct;43(5):1121-32. doi: 10.1016/j.otc.2010.05.010.
9
Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.KCNE1 或 KCNE3 基因多态性与高加索人群的梅尼埃病无关。
Am J Med Genet A. 2010 Jan;152A(1):67-74. doi: 10.1002/ajmg.a.33114.
10
Polymorphic analysis of the heat-shock protein 70 gene (HSPA1A) in Ménière's disease.梅尼埃病中热休克蛋白70基因(HSPA1A)的多态性分析
Acta Otolaryngol. 2008 Nov;128(11):1173-7. doi: 10.1080/00016480801901675.