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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 m l用于Q iagen试剂盒方法抽提基因组DNA,TaqM an探针法化学荧光等位基因鉴别试验检测SNP,Hap loview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-W e inberg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 investigate the association between the susceptibility to noise-induced hearing loss and the haplotypes of SOD2 gene rs2842980, rs5746136, rs2758331, rs4880 and rs5746092 in Chinese Han population. Methods A case-control study was conducted to compare the hearing threshold shift in the 3 000 Hz frequency band of the left ear of a noise worker with the same noise exposure level, and 10% of individuals with the largest hearing threshold shift were selected as the susceptible group (201 patients in total) The least displacement of 10% of individuals as tolerant groups (202 cases), and related occupational health surveys and questionnaires. 5 ml of fasting peripheral venous blood was drawn from susceptible and tolerant populations for Q iagen kit extraction of genomic DNA, TaqMan probe chemistry for detection of fluorescent alleles for SNPs, Hap loview software for haplotype calculations Compare with two groups. Results The median of noise exposure and the upper and lower quartile spacing of susceptible population and tolerant population were 86.90 (83.05, 92.90) and 86.90 (83.73, 92.70) respectively. There was no significant difference between the two groups P> 0.05). The mean hearing threshold displacement at 3 000 Hz in the susceptible population was (40.23 ± 9.53) dB, significantly higher than that in the tolerated population (16.15 ± 2.58 dB, P <0.01). rs2842980, rs5746136, rs2758331, rs4880 and rs5746092 SNPs genotype frequencies in both groups were in line with the genetic Hardy-Weinberg equilibrium (P> 0.05). The haplotype AGCCG was a risk factor for NIHL compared with haplotype AGCTG, which had the highest frequency of distribution. OR (95% CI) was 2.63 (1.14-6.06), P = 0.020. Conclusion The haplotypes of SOD2 rs2842980, rs5746136, rs2758331, rs4880 and rs5746092 may be related to the susceptibility to noise-induced hearing loss.