目的探讨噪声性听力损失易感性与中国汉族人群SOD2基因rs2842980、rs5746136、rs2758331、rs4880和rs5746092组成单倍型之间的关联。方法利用病例对照研究,通过比较同一噪声暴露水平噪声作业人员的左耳3 000 Hz频段听阈位移情况,筛选出听阈位移最大的10%个体作为本研究的易感人群组(共201例),听阈位移最小的10%个体作为耐受人群组(共202例),并进行相关的职业卫生调查和问卷调查。抽取易感人群和耐受人群空腹外周静脉血5 ml用于Qiagen试剂盒方法抽提基因组DNA,TaqMan探针法化学荧光等位基因鉴别试验检测SNP,Haploview软件进行单倍型的计算和两组比较。结果噪声性听力损失易感人群和耐受人群噪声暴露水平中位数和上下四分位数间距分别为86.90(83.05,92.90)和86.90(83.73,92.70),两组比较差异无统计学意义(P〉0.05);易感人群3 000 Hz左耳平均听阈位移水平(40.23±9.53)dB,显著高于耐受人群[(16.15±2.58)dB,P〈0.01]。rs2842980、rs5746136、rs2758331、rs4880和rs5746092 SNPs基因型频率在两组人群中分布均符合遗传学Hardy-Weinberg平衡(P〉0.05)。与分布频率最高的单倍型AGCTG相比,单倍型AGCCG是NIHL的危险因素,OR(95%CI)为2.63(1.14-6.06),P=0.020。结论 SOD2 rs2842980、rs5746136、rs2758331、rs4880、rs5746092单倍型可能与噪声性听力损失易感性有关。
Objective To observe the association between rs2842980, rs5746136, rs2758331, rs4880, rs5746092 Haplotypes in SOD2 and noise - induced hearing loss in Chinese Han population. Methods A case - control study was designed to study the effeet of environmental risk factors on suseepfibility to NIHL in 201 sensitive workers and 202 resistant workers. A questionnaire was designed to carry out an investigation, and an occupational health survey was used to identify the oceupational risk faetors. Genomie DNA was extracted from peripheral blood eeUs samples using standard procedures of Qiagen kit. SNPs were detected using standard proeedures of TaqMan probe allele identification method. Haplotypes were analyzed by the Haploview software. Results There were no signifieant differenee in noise exposure levels between the NIHL sensitive workers and resistant ones [ 86. 90 ( 83.05, 92. 90) dB vs 86. 90 ( 83.73, 92.70) dB ], but the HT of 3 000 Hz in left ear were signifieant higher in NIHL sensitive workers than in the resistant workers( (40. 23 ±9. 53) dB vs (16. 15 ±2. 58) dB]. All the five feasible polymorphisms were in Hardy -Weinberg equilibrium. Compared with haplo- type AGCTG, hyplotype AGCCG was a risk faetor, OR ( 95 % CI) was 2. 63 ( 1.14 - 6. 06 ), P = 0. 020. Conclusion The rs2842980,rs5746136,rs2758331, rs4880, rs5746092 haplotypes in SOD2 may be associated with the susceptibility to NIHI.