PRKAG2多态性与特应性皮炎的相关性研究  

Association study of PRKAG2 gene polymorphism and clinical features of atopic dermatitis

作　　者：房灵[1] 吴延延 刘龙丹 李蔚然[1] 江龙[1] 李龙年[1] 郑晓东[1] 左先波[1] 肖风丽[1] 

机构地区：[1]安徽医科大学第一附属医院皮肤性病科,合肥230032

出　　处：《安徽医科大学学报》2015年第6期804-808,共5页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金(编号:81172838;81071284)

摘　　要：目的研究PRKAG2基因多态性与汉族人特应性皮炎(AD)临床表型之间的关系。方法利用本研究团队前期全基因组关联分析Illumina Human 610芯片和Sequenom Mass Array平台对4 480例AD患者和12 319例正常对照者的基因分型结果,采用病例-对照,病例-病例研究,使用SPSS 20.0分析AD患者与正常人基因型分布频率,并比较其等位基因和基因型与患者临床表型之间的相关性。结果遗传模型分析显示PRKAG2(rs17173197)基因型频率在病例组与对照组间差异有统计学意义(P<0.05),在隐性模型下对AD发病作用最强(P<0.05)。分层分析结果表明rs17173197等位基因G与南方地区人群、AD家族史、AD伴干燥症相关(P<0.05)。未发现rs17173197与AD的其他表型包括发病年龄、疾病严重程度、伴发哮喘、伴发过敏性鼻炎、伴发鱼鳞病、总Ig E水平升高相关。结论本研究首次发现PRKAG2(rs17173197)最小等位基因G与中国汉族人群,AD南方地区、AD家族史、AD伴干燥症有相关性。Objective To investigate the associations of PRKAG2 gene polymorphism with the phenotypic traits of aopic dermatitis in the Chinese Han population. Methods A total of 4,480 AD patients and 12,319 controls were selected from our previous aopic dermatitis GWAS in the Chinese Han population using Illumina Human 610 chips and Sequenom MassArray. Our research using case-control,case-case studies,and the SPSS 20. 0 statistical analy-sis was used to compare the distribution of genotype frequency in patients and contols,then compared the correla-tion of alleles and genotype with the clinical phenotype. Results The frequency genotype GG,GA of SNP PRK-AG2（rs17173197 ）was statistically significant between the case group and control group（P 〈 0. 05）. Analyses of the genetic model revealed that the most suitable model describing the association of rs17173197 polymorphism with aopic dermatitis was recessive model（P 〈 0. 05）. Stratified analyses showed that G allele frequency distribution of rs17173197 polymorphism was associated with south patients,familial aopic dermatitis,concomitant xerosis（P 〈0. 05）. However,we failed to observe any significant association of the risk allele G of rs17173197 with other sub-phenotype in aopic dermatitis. Conclusion Our study is the first one to validate that the risk allele G of PRKAG2 （rs17173197）confers risk for southern area ,concomitant xerosis and familial atopic dermatitis.

关 键 词：单核苷酸变异 易感基因 基因型 皮炎 特应性 

分 类 号：R758.29[医药卫生—皮肤病学与性病学] R394.3[医药卫生—临床医学]