DNA甲基转移酶1和GJB2基因多态性与突发性聋易感性研究  

Correlation between DNMT1 and GJB2 Gene Polymorphisms and Susceptibility to Sudden Sensorineural Hearing Loss

作　　者：张岩岩 刘华 宋扬 郭海艳 Zhang Yanyan;Liu Hua;Song Yang;Guo Haiyan(Department of Otolaryngology,Tangshan Workers Hospital,Tangshan,063000,China)

机构地区：[1]河北省唐山市工人医院耳鼻喉科,唐山063000

出　　处：《听力学及言语疾病杂志》2020年第2期160-164,共5页Journal of Audiology and Speech Pathology

基　　金：2018年度河北省医学科学研究重点课题计划(20181170)。

摘　　要：目的研究DNA甲基转移酶1(DNA methyltransferase 1,DNMT1)基因rs2228612位点和连接蛋白26基因(GJB2)rs55704559位点单核苷酸多态性(single nucleotide polymorphism,SNP)与突发性聋(sudden sensorineural hearing loss,SSHL)易感性的关系。方法选择2014年5月至2018年10月期间收治的185例SSHL患者作为研究组,其中男92例,女93例,有吸烟史者45例,有饮酒史者54例。选择185例听力正常人作为对照组,其中男96例,女89例,有吸烟史者51例,有饮酒史者58例。采集所有受试者外周血后采用测序法检测DNMT1基因rs2228612位点和GJB2基因rs55704559位点基因型,并分析其与突聋易感性的关系。结果DNMT1基因rs2228612位点C等位基因是SSHL的保护因素(P<0.05),GJB2基因rs55704559位点G等位基因是SSHL发生的危险因素(P<0.01);在男性和吸烟人群中观察到DNMT1基因rs2228612位点突基因型是SSHL风险的保护因素(P<0.05),在女性、吸烟、饮酒人群中观察到GJB2基因rs55704559位点突变基因型是SSHL易感的危险因素(P<0.05)。结论DNMT1基因rs2228612位点和GJB2基因rs55704559位点SNP与SSHL易感性相关,这种相关性可能与性别、吸烟、饮酒状态有关。Objective To study the correlation between DNA methyltransferase 1(DNMT1)gene rs2228612 locus and the connexin 26 gene(GJB2)gene rs55704559 locus single nucleotide polymorphism(SNP)and sudden sensorineural hearing loss(SSHL)susceptibility.Methods A total of 185 SSHL patients admitted to our hospital from May 2014 to October 2018 were selected as the study group.Among them,there were 92 males,93 females,45 cases had smoking history and 54 cases had drinking history.Another 185 people with normal hearing were used as the control group with 96 males and 89 females,51 cases had smoking history and 58 cases had drinking history.The DNMT1 gene rs2228612 locus and the GJB2 gene rs55704559 locus genotype in peripheral blood were detected by direct sequencing,and the relationship between the genes and susceptibility to sudden deafness was analyzed.Results The C allele of the rs2228612 locus of the DNMT1 gene was a protective factor for SSHL(P<0.05).GJB2 gene rs55704559 G allele was a risk factor for SSHL(P<0.01).GJB2 gene rs55704559 locus genotype was observed as a protective factor for SSHL risk in males and smokers(P<0.05).GJB2 gene rs55704559 mutation gene genotype was observed as a risk factor for SSHL risk in women,smoking,and drinking population(P<0.05).Conclusion The DNMT1 gene rs2228612 locus and the GJB2 gene rs55704559 locus SNP are associated with the risk of SSHL.This correlation may be related to gender,smoking,and drinking status.

关 键 词：DNA甲基转移酶1 连接蛋白26 突发性聋 单核苷酸多态性 

分 类 号：R764.437[医药卫生—耳鼻咽喉科]