KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性研究

doi:10.3969/j.issn.1004-616x.2015.04.006

癌变·畸变·突变 ›› 2015, Vol. 27 ›› Issue (4): 284-287.doi: 10.3969/j.issn.1004-616x.2015.04.006

KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性研究

谈柯宏, 于德财, 张娟, 尹立红, 浦跃朴

东南大学公共卫生学院环境医学工程教育部重点实验室, 江苏南京 210009

收稿日期:2015-03-31 修回日期:2015-06-11 出版日期:2015-07-30 发布日期:2015-07-30
作者简介:谈柯宏,E-mail:kehom123@126.com。
基金资助:
环境医学工程教育部重点实验室开放课题(2015EME001)

The correlation of KCNQ4 and GJB2 genetic polymorphisms and occupational noise-induced hearing loss

TAN Kehong, YU Decai, ZHANG Juan, YIN Lihong, PU Yuepu

Key Laboratory of Environmental Medicine Engineering, Ministry of Education, School of Public Health, Southeast University, Nanjing, 210009 Jiangsu, China

Received:2015-03-31 Revised:2015-06-11 Online:2015-07-30 Published:2015-07-30
Contact: 浦跃朴,E-mail:Yppu@seu.edu.cn E-mail:Yppu@seu.edu.cn

摘要/Abstract

摘要： 目的: 探讨KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性。方法:采用1:1配对病例对照研究,应用PCR和直接测序法,检测了103对噪声性听力损失工人与噪声暴露听力正常工人的KCNQ4 rs34287852和GJB2 rs3751385位点的基因型,分析目的SNP位点基因型与职业噪声性听力损失发生的关系。结果:KCNQ4 rs34287852位点T,G等位基因及各基因型在病例与对照组间的分布差异无统计学意义(P>0.05)。病例组GJB2 rs3751385位点C等位基因的频率明显高于对照组(P<0.05)。病例组CC突变基因型的频率也显著高于对照组(P<0.05),工人携带突变纯合CC基因型发生听力损失危险性为携带野生纯合型TT个体的2.78倍。结论:GJB2 rs3751385位点突变与噪声性听力损失存在相关性,GJB2 rs3751385 CC基因型可能是噪声性听力损失的易感基因型之一。

关键词: KCNQ4, GJB2, 噪声性听力损失, 基因多态性

Abstract: OBJECTIVE: To explore the correlation between KCNQ4,GJB2 genetic polymorphisms and noise-induced hearing loss. METHODS: 1:1 matched case-control design was used in this study. The genetic polymorphisms of KCNQ4 rs34287852 and GJB2 rs3751385 were detected by polymerase chain reaction and direct sequencing in 103 pairs of hearing loss workers and normal workers with same noise exposure. The relationship between target SNPs and noise induced hearing loss (NIHL) were analyzed. RESULTS: There is no statistical difference of the frequency of T,G alleles and genotypes in KCNQ4 rs34287852 between cases and controls. The frequency of C allele and CC mutation genotype in GJB2 rs3751385 was significantly higher in case group than that in control group. Workers carried CC homozygous mutations were at the 2.78 fold risk of developing hearing loss than individuals with TT wild homozygous type when they exposed to the occupational noise. CONCLUSION: There was the correlation between GJB2 rs3751385 mutation and NIHL and the CC genotype might be susceptible genotype of NIHL.

Key words: KCNQ4, GJB2, noise-induced hearing loss, polymorphisms

中图分类号:

R135.8

谈柯宏, 于德财, 张娟, 尹立红, 浦跃朴. KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性研究[J]. 癌变·畸变·突变, 2015, 27(4): 284-287.

TAN Kehong, YU Decai, ZHANG Juan, YIN Lihong, PU Yuepu. The correlation of KCNQ4 and GJB2 genetic polymorphisms and occupational noise-induced hearing loss[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2015, 27(4): 284-287.

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KCNQ4和GJB2基因多态性与职业噪声性听力损失的相关性研究

The correlation of KCNQ4 and GJB2 genetic polymorphisms and occupational noise-induced hearing loss

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