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目的探讨听力相关基因中3’非翻译区单核苷酸多态性(SNP)与中国汉族人群噪声性听力损失(NIHL)的易感关联性。方法采用判断抽样法,选择广州市3家大型压缩机生产企业接触40 h等效声级为72~120 d B(A)的2 507名工人为研究对象,结合工作场所噪声强度测量结果和工人纯音测听结果,筛选易感组和耐受组人群各238人。获取2组人群周围血基因组DNA,采用Taq Man探针法化学荧光等位基因鉴别试验进行遗传特征分析。结果易感组人群左耳听阈加权值(MTWV)大于右耳(P<0.01);易感组人群的左耳、右耳MTWV分别高于耐受组人群左耳和右耳MTWV(P<0.01)。共筛选4个候选基因:囊泡相关膜蛋白1(VAMP1)、成纤维细胞生长因子1(FGF1)、钾离子内向整流通道蛋白J亚单位10号成员(KCNJ10)和肌球蛋白1C(MYO1C)。基因SNP位点检测结果显示,易感组人群携带FGF1 rs17217562位点AC和CC基因型均多于耐受组(P<0.05),携带C等位基因多于耐受组(P<0.05)。Logistic回归分析结果显示,校正年龄、噪声暴露水平、噪声作业工龄、性别、吸烟、饮酒,以及是否使用耳机、接触有机溶剂、重金属、高温和手传振动等混杂因素后,FGF1 rs17217562位点携带等位基因C的人群患NIHL易感风险增加(P<0.05)。未发现VAMP1、KCNJ10和MYO1C的SNP与NIHL易感有关联。结论中国汉族人群的FGF1 rs17217562位点SNP可能与NIHL易感性有关。
Objective To investigate the susceptibility association of 3 ’untranslated region (SNP) in hearing-related genes to noise-induced hearing loss (NIHL) in Chinese Han population. Methods The judgment sampling method was used to select 2 507 workers whose 40-hour equivalent sound level reached 72-120 d B (A) in three large-scale compressor manufacturing enterprises in Guangzhou City as research objects. Based on the results of noise intensity measurement in the workplace and workers Pure tone audiometry results, screening 238 susceptible group and tolerated group of 238 people. Peripheral blood genomic DNA was obtained from two groups of people, and the genetic characteristics were analyzed by TaqMan probe chemical fluorescent allele discrimination test. Results The MTWV of left ear and right ear in susceptible group was higher than that of right ear in susceptible group (P <0.01) ). A total of four candidate genes were screened: VAMP1, FGF1, KCNJ10 and MYO1C, . The results of SNP loci showed that the susceptibility group had more AC and CC genotypes than rs17217562 (P <0.05) and C allele (P <0.05). Logistic regression analysis showed that the FGF1 rs17217562 locus was carried by other factors such as age of correction, level of noise exposure, working age of noise, sex, smoking, alcohol consumption, and the use of headphones, exposure to organic solvents, heavy metals, high temperature and hand vibration People with Gene C were at increased risk of developing NIHL (P <0.05). No SNPs of VAMP1, KCNJ10 and MYO1C were found to be associated with NIHL susceptibility. Conclusion The SNP of rs17217562 in FGF1 in Chinese Han population may be related to the susceptibility to NIHL.