GJB2基因多态性与汉族人群职业噪声性听力损失相关性的研究

doi:10.3969/j.issn.1004-616x.2016.02.008

癌变·畸变·突变 ›› 2016, Vol. 28 ›› Issue (2): 121-124,130.doi: 10.3969/j.issn.1004-616x.2016.02.008

GJB2基因多态性与汉族人群职业噪声性听力损失相关性的研究

于德财, 苗龙, 杨文文, 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:2016-02-01 修回日期:2016-03-03 出版日期:2016-03-31 发布日期:2016-03-31
通讯作者: 浦跃朴,E-mail:Yppu@seu.edu.cn E-mail:Yppu@seu.edu.cn
作者简介:于德财,E-mail:yudecai422221@163.com
基金资助:
环境医学工程教育部重点实验室开放课题(2015EME001);中央高校基本科研业务费专项基金和江苏省普通高校研究生科研创新计划资助项目(SJZZ_0034)

Association between GJB2 genetic polymorphisms and occupational hearing loss in Chinese Han population

YU Decai, MIAO Long, YANG Wenwen, ZHANG Juan, YIN Lihong, PU Yuepu

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

Received:2016-02-01 Revised:2016-03-03 Online:2016-03-31 Published:2016-03-31

摘要/Abstract

摘要： 目的: 探讨缝隙连接蛋白beta2(GJB2)基因rs2274083、rs2274084和rs72474224位点多态性与汉族人群职业噪声性听力损失易感性之间的关系。方法: 应用1:1病例-对照研究,病例组177例为电测听结果双耳高频平均听阈≥40 dB的在岗工人,对照组177例为年龄、性别、作业工龄与病例组相匹配,并且电测听结果双耳高频平均听阈<25 dB的同岗位轮班工人。采用PCR扩增177对样本目的基因片段,对目的基因片段进行测序,确定待研究位点的基因型。结果: GJB2基因的rs2274084位点C、T等位基因频率在病例组和对照组中分布分别为73.73%、26.27%和63.84%、36.16%,其中CC、TC、TT基因型在病例组和对照组中的分布分别为55.37%、36.72%、7.91%和40.11%、47.46%、12.43%。该位点的基因型频率与等位基因频率在病例与对照组之间的差异均具有统计学意义(P<0.05)。rs2274083和rs72474224位点基因型分布在病例与对照组间的差异均无统计学意义(P>0.05)。结论: GJB2 rs2274084可能是汉族人群职业噪声性听力损失的易感基因位点,携带C等位基因的工人,暴露职业噪声时更易发生听力损失。

关键词: 噪声性耳聋, 多态性, 易感基因, 缝隙连接蛋白beta2

Abstract: OBJECTIVE: To investigate whether any of the three polymorphisms (rs2274083, rs2274084, rs72474224) of GJB2 are associated with susceptibility to occupational noise-induced hearing loss in Chinese Han population. METHODS: A 1:1 case-control study was conducted using 177 cases with average hearing threshold of no less than 40 dB in high frequency and 177 controls with average hearing threshold of less than 25 dB in high frequency. Controls were matched with cases according to gender, age, duration of noise exposure and working positions. The genotypes were sequenced after polymerase chain reaction. RESULTS: There was statistically significant differences in the distribution of genotypes and alleles frequencies of rs2274084 between cases and controls. The rs2274084 C and T allele frequencies in cases and controls were 73.73%, 26.27% and 63.84%, 36.16%. The CC genotypes, TC genotypes, TT genotypes in cases and controls were 55.37%, 36.72%, 7.91% and 40.11%, 47.46%, 12.43% respectively. There was no statistically significant difference in the distribution of genotypes of rs2274083 and rs7274224 between cases and controls. CONCLUSION: The data suggest that GJB2 rs2274084 might be the susceptibility gene locus of noise-induced hearing loss in Chinese workers. In addition, workers with the C genotype in rs2274084 might be susceptible to noise-induced hearing loss.

Key words: noise-induced deafness, polymorphism, susceptibility gene, gap junction protein beta 2

中图分类号:

R994.6

于德财, 苗龙, 杨文文, 张娟, 尹立红, 浦跃朴. GJB2基因多态性与汉族人群职业噪声性听力损失相关性的研究[J]. 癌变·畸变·突变, 2016, 28(2): 121-124,130.

YU Decai, MIAO Long, YANG Wenwen, ZHANG Juan, YIN Lihong, PU Yuepu. Association between GJB2 genetic polymorphisms and occupational hearing loss in Chinese Han population[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2016, 28(2): 121-124,130.

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GJB2基因多态性与汉族人群职业噪声性听力损失相关性的研究

Association between GJB2 genetic polymorphisms and occupational hearing loss in Chinese Han population

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