CAJ | 학술논문

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4480例 AD 患者和12319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 IgE 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。
목적：연구 PRKAG2기인다태성여한족인특응성피염（AD）림상표형지간적관계。방법이용본연구단대전기전기인조관련분석 Illumina Human 610심편화 Sequenom Mass Array 평태대4480례 AD 환자화12319례정상대조자적기인분형결과，채용병례-대조，병례-병례연구，사용SPSS 20.0분석 AD 환자여정상인기인형분포빈솔，병비교기등위기인화기인형여환자림상표형지간적상관성。결과유전모형분석현시 PRKAG2（rs17173197）기인형빈솔재병례조여대조조간차이유통계학의의（P <0.05），재은성모형하대 AD 발병작용최강（P <0.05）。분층분석결과표명rs17173197등위기인 G 여남방지구인군、AD 가족사、AD 반간조증상관（P <0.05）。미발현 rs17173197여 AD 적기타표형포괄발병년령、질병엄중정도、반발효천、반발과민성비염、반발어린병、총 IgE 수평승고상관。결론본연구수차발현 PRKAG2（rs17173197）최소등위기인 G 여중국한족인군，AD 남방지구、AD 가족사、AD 반간조증유상관성。
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.