北京大学学报（医学版）2016，Vol.48Issue(3)：409-413,5.DOI:10.3969/j.issn.1671-167X.2016.03.006
GRHL2基因多态性与噪声性听力损失易感性的关系
Association between grainyhead-like 2 gene polymorphisms and noise-induced hearing loss
摘要
Abstract
Objective:To investigate association between genetic polymorphism in the grainyhead-like 2 gene (GRHL2)and noise-induced hearing loss (NIHL)in the Chinese population.Methods:A matched case-control association study was employed,In which,3 790 workers exposed to continuous and steady-state occupational noise in a steel factory participated.The questionnaires were adopted to col-lect individual features and audiometry tests performed.In the sstudy,286 subjects were diagnosed as ca-ses,Which were each designated on the basis of the matched criterion,and 286 paired samples were se-lected finally.Noise intensity was measured according to the standards given in ‘Measurement of Noise in the Workplace’(Occupational Health Standard of the People’s Republic of China,GBZ /T1 89.8 -2007).Cumulative noise exposure (CNE)was calculated,according to monitoring data on A-weighed sound pressure level and employment time.Genomic DNA was obtained from peripheral blood samples using 2 mL DNA extraction Kit following the manufacturer’s protocol.Five single nucleotide polymor-phisms (SNPs)of GRHL2 were genotyped by multiplex SNP genotyping kit.The continuous variables and categorical variables were analyzed by t-test and chi-square test respectively.Multivariate Logistic re-gression was used to test the association between genetic frequency and disease status,with adjustments for the possible confounding variables.The haplotypes were established and their frequencies in the two groups were assessed by haploview and phase softwares.Results:All the five SNPs (rs373571 3, rs3824090,rs373571 4,rs373571 5 and rs61 1 41 9)were in Hardy-Weinberg equilibrium (HWE)(P >0.05).The subjects carrying rs373571 5 GG genotype had a higher NIHL risk than those carrying the GA genotype under the co-dominant model (OR =0.644,95% CI:0.442 -0.939,P =0.022)after ad-justment for height,blood pressure,drinking status and smoking status.After being stratified by CNE,in the CNE ≥ 98 dB (A)group,rs373571 5 polymorphism was associated with the NIHL under the co-dominant model (OR =0.509,95% CI:0.281 -0.923,P =0.026)after adjustment for height,blood pressure,drinking status and smoking status as well.However,no statistical significant difference was found in variant genotypes of the other SNPs between the case and control subjects.Four-locus (rs373571 3,rs3824090,rs373571 4 and rs373571 5)haplotypes were constructed,and no risk or protec-tive haplotypes was identified.Conclusion:It is suggested that GRHL2 polymorphisms may be associated with development of NIHL.关键词
GRHL2/多态现象,遗传/听觉丧失,噪声性/疾病易感性Key words
GRHL2/Polymorphism,genetic/Hearing loss,noise-induced/Disease susceptibility分类
医药卫生引用本文复制引用
杨秋月,李艳红,徐相蓉,焦洁,何丽华,余善法,谷桂珍,陈国顺,周文慧,吴辉..GRHL2基因多态性与噪声性听力损失易感性的关系[J].北京大学学报（医学版）,2016,48(3):409-413,5.基金项目
国家自然科学基金（81372940）和国家科技支撑计划（2014BAI12B03）资助 Supported by the National Natural Science Foundation of China （81372940）and Research Fund from National Science and Technology Infrastructure Program of China （）
