酰基羧酸水解酶基因多态性与中国人群慢性鼻-鼻窦炎的相关性研究  

Association study between single nucleotide polymorphism in AOAH gene and chronic rhinosinusitis in a Chinese population

作　　者：赵延明[1] 张媛[1,2] 崔晓辉[2] 阮宇[1,2] 张罗[2] 

机构地区：[1]首都医科大学附属北京同仁医院耳鼻咽喉头颈外科,100730 [2]北京市耳鼻咽喉科研究所鼻病研究北京市重点实验室

出　　处：《中华耳鼻咽喉头颈外科杂志》2014年第8期668-674,共7页Chinese Journal of Otorhinolaryngology Head and Neck Surgery

基　　金：北京市自然科学基金（7131006）;国家自然科学基金（81100706）;首都卫生发展科研专项（2011-1017-06）;卫生部2012年度公益性行业科研专项（201202005）;鼻病研究北京市重点实验室2012年阶梯计划项目（Z121107009212032）

摘　　要：目的 进行慢性鼻-鼻窦炎（chronic rhinosinusitis,CRS）风险基因在中国汉族CRS人群中的验证性研究.方法 选取2008年2月至2009年7月首都医科大学附属北京同仁医院CRS伴鼻息肉患者306例,CRS不伴鼻息肉患者332例及健康对照组315例作为研究对象.选择加拿大学者研究发现的与CRS显著相关的10个基因位点进行单核苷酸多态性（single nucleotide polymorphism,SNP）分型验证.等位基因频率和基因型频率采用频率计数法计算,应用x2检验或确切概率法进行分析,最后得出的统计学结果进行Bonferroni多重矫正.以SPSS 13.0软件进行统计学分析.结果 酰基羧酸水解酶（acyloxyacyl hydroxylase,AOAH）基因的SNP位点rs4504543与CRS具有相关性（OR=0.559 0,P=1.95 ×10^-5）.在CRS亚型的分析中发现,rs4504543位点与CRS不伴鼻息肉具有相关性（OR=0.284 8,P=3.47 ×10^-12）.结论 AOAH基因多态性在中国汉族人群中与CRS发病具有相关性,AOAH多态性改变可降低中国汉族人群CRS的发病风险.Objective To replicate the polymorphisms in risk genes of chronic rhinosinusitis in a Chinese Han population.Methods Enrolled in this study were CRS patients with nasal polyps （n =306,CRSwNP）,CRS patients without nasal polyps （n =332,CRSsNP）,and controls （n =315） in a Chinese population.All the patients were recruited from clinic of the department of Otorhinolaryngology of Beijing Tongren Hospital between 2008 February and 2009 July.A total of 10 single nucleotide polymorphisms （SNPs） selected from previous identified SNPs associated with CRS in Canadian population were individually genotyped.Allele and genotype frequencies were calculated by frequency counting,the chi-square test or exact method were applied to analyze the results.Final results were corrected by Bonferroni multiple correction.SPSS 13.0 software was used for statistical analysis.Results One SNP in AOAH gene （rs4504543,P =1.95 × 10^-5,OR =0.559 0） was identified to be significantly associated with whole CRS cohort.After subgroup analysis for the presence of nasal polyps （CRSwNP and CRSsNP）,the same SNP in AOAH （rs4504543,P =3.47 × 10^-12,OR =0.284 8） was also found to be significantly associated with CRSsNP cohorts.Conclusions AOAH was significantly associated with CRS and its polymorphisms might play a role in the susceptibility to develop CRS in Chinese population.

关 键 词：鼻窦炎 多态性 单核苷酸 酰基羧酸水解酶类 

分 类 号：R765.41[医药卫生—耳鼻咽喉科]