过氧化氢酶基因rs208679在重庆汉族人群中的分布及其与噪声性耳聋的关联性

Distribution of catalase gene rs208679 polymorphism among Han population in Chongqing and it relationship with noise-induced hearing loss

目的探讨过氧化氢酶（catalase，CAT）基因5’区-6411A／G（rs208679）多态性在重庆汉族人群中的分布及其与噪声性耳聋（noise—inducedhearingloss，NIHL）的关联研究。方法以重庆地区汉族无血缘关系的健康自愿者225例（健康对照组）、噪声接触者237例（噪声接触组）作为研究对象。噪声接触组根据有无NIHL又分为无耳聋组170例和耳聋组67例。采用iMLDR“分型技术，分别检测各组CAT基因5’区rs208679多态的基因型，并比较组间基因型、等位基因频率分布及临床耳聋发生率间的差异。结果在研究人群中检测到rs208679多态的3种基因型AA、AG和GG，两组人群的A等位基因频率均为0．76，G等位基因频率为0．24，健康对照组和噪声接触组基因型频率分布符合Hardy—Weinberg遗传平衡定律（P〉0．05）。健康对照组与噪声接触组、无耳聋组与耳聋组间，多态基因型（AA、AG及GG）和等位基因（A、G）频率分布差异均无统计学意义（P〉0．05）；但无耳聋组与耳聋组的隐性分析GG：AG＋AA差异有统计学意义（P〈0．05）。结论rs208679是NIHL的易感基因，可作为N1HL易感性的生物标志。

Objective To investigate the distribution of- 6411A/G （ rs208679 ） polymorphism in the 5＇ region of catalase （CAT） gene among Han population in Chongqing and its correlation with noise- induced hearing loss （NIHL）. Methods A total of 225 healthy volunteers （normal control group） and 237 noise exposure cases （noise exposure group） were collected from the unrelated Han people in Chongqing. The noise exposure group were further divided into non-deaf group （n = 170） and deaf group （n = 67） according the presence or absence of NIHL. rs208679 polymorphism in the 5＇ region of CAT gene was identified using the improved multiplex ligation detection reaction （iMLDR） technique. Geno- types, allelic frequencies and clinical deaf incidence were compared among groups. Results Three genotypes （AA, AG, and GG） were detected in the rs208679 locus. Frequencies of A and G alleles in normal control group and noise exposure group were 0.76 and 0.24 respectively. Genotype distribution in normal control group and noise exposure group showed no deviation from the Hardy-Weinberg equilibrium （P 〉 0.05）. There were no significant differences in gene polymorphism （AA, AG, and GG） and allelic frequencies （ A and G） between normal control group and noise exposure group and between deaf groupand non-deaf group （ P 〉 0.05 ）. However, significant difference was observed between deaf group and non-deaf group in recessive analysis （ GG vs AG ＋ AA, P 〈 0.05）. Conclusion rs208679 is the pre- disposing gene to NIHL and can be used as the biomarker for NIHL susceptibility.