钙粘蛋白23基因多态性与噪声性听力损失易感性的关系研究

目的探讨钙粘蛋白23基因(CDH23)多态性与噪声性听力损失之间的关系。方法采用横断面流行病学研究方法,对194名噪声暴露作业工人进行调查和听力测试,按听力学评价的结果将其分为听力损失组和听力正常组;用多聚酶链反应-限制性片断长度多态性(PCRRFLP)方法检测其CDH23基因上4个单核苷酸位点的多态性。结果CDH23基因的rs1227049和rs1227051两个位点的基因型分布及其等位基因频率在93名噪声性听力损失与101名听力正常工人之间差异无显著性(P>0.05);而rs3802711位点和第七外显子的末位单核苷酸位点的基因型分布及其等位基因频率在两组之间差异均有极显著性(P<0.01)。用多元Logistic回归分析对两组间年龄、性别、吸烟状况、爆震史和累积噪声暴露量等因素进行校正后,发现rs1227049位点的CC基因型与GG基因型相比噪声性听力损失的危险度显著升高,调整OR值为3.865(95%可信区间为1.076～13.886);rs3802711位点的TT基因型与CT基因型相比噪声性听力损失的危险度有极显著性升高,调整OR值为6.088(95%可信区间为2.485～14.917);第七外显子的末位单核苷酸位点的GG基因型与AG基因型相比噪声性听力损失的危险度也有极显著性升高,调整OR值为5.769(95%可信区间为2.745～12.121)。结论钙粘蛋白23基因多态性可能在噪声性听力损失的发病过程中起重要作用,携带rs1227049CC基因型、rs3802721TT基因型和第七外显子末位单核苷酸位点GG基因型的个体对噪声性听力损失更为易感。

Association of cadherin CDH23 gene polymorphisms with noise induced hearing loss in Chinese workers

Objective To investigate the association of cadherin 23 gene(CDH23)polymorphisms with the development of noise induced hearing loss (NIHL). Methods 194 workers exposed to occupational noise were drawn as the subjects in the cross-sectional epidemiology study. According to the result of audiometry, they were divided into two groups: the NIHL group and the normal group. The genotypes of 93 workers with NIHL and 101 normal workers were tested by polymerase chain reaction followed by restriction fragment polymorphism analysis(PCR-RFLP). Results There were no significant difference in the distribution of genotypes and alleles frequencies of the rs1227049 and rs1227051 positions between NIHL group and normal group (P>0.05), there were significant differences between the two groups in the rs3802711 position and the terminal position of exon 7 (P<0.01). After adjusted for age, sex, smoking, history of explosive noise exposure and cumulative noise exposure (CNE) with multiple logistic regression analysis, the risk of rs1227049 CC genotype was found significantly increased than that of the GG genotype, the OR value of which was 3.865 (95%CI 1.076-13.886), the risk of rs3802711 TT genotype was significantly higher than that of the CT genotype, the OR value of which was 6.088 (95%CI 2.485-14.917). GG genotype in the terminal position of exon 7 was also found a significantly higher risk than the AG genotype, the OR value of which was 5.769 (95% CI 2.745-12.121). Conclusion It was suggested that genetic polymorphism in cadherin CDH23 gene might play an important role in the development of NIHL in Chinese workers. The individuals with the rs1227049 CC genotype, rs3802711 TT genotype and GG genotype in the terminal position of exon 7 might be more susceptible to NIHL.