IRF2基因rs13146124位点多态性与系统性红斑狼疮的关联性研究  

Study on the relationship between polymorphism site rs13146124 of IRF2 and systemic lupus erythematosus patients

作　　者：崔晓丽[1] 李红梅[2] 刘水和[2] 叶震璇[2] 张华[2] 

机构地区：[1]遵义医学院检验系,贵州遵义563000 [2]贵州省人民医院检验科,贵阳550001

出　　处：《重庆医学》2016年第30期4230-4232,4236,共4页Chongqing medicine

基　　金：贵州省科技厅国际合作基金资助项目(黔科合外G字[2012]7046号)

摘　　要：目的探讨Ⅰ型干扰素通路中干扰素调节因子2（IRF2）基因rs13146124位点单核苷酸多态性（SNP）与系统性红斑狼疮（SLE）易感性之间的关联。方法采用Taqman实时荧光定量聚合酶链式反应（PCR）分析技术检测366例SLE患者、218例健康对照者IRF2基因rs13146124位点多态性,计算和分析基因型和等位基因频率。结果SLE患者IRF2rs13146124位点AA、AG、GG基因型频率分别为0.011、0.246、0.743,与对照组间差异无统计学意义（χ^2值分别为0.093、0.205、0.136;P值分别为0.761、0.651、0.712）;SLE患者IRF2rs13146124位点A、G等位基因的频率分别为0.13、0.87,与对照组间差异无统计学意义（χ^2=0.071,P=0.790）。IRF2rs13146124位点等位基因A和G与抗核抗体（ANA）、抗双链DNA抗体（dsDNA）等特异性抗体之间差异无统计学意义（P〉0.05）。IRF2rs13146124位点的等位基因与关节炎、肾损伤等临床特征无相关关系。结论 IRF2rs13146124基因位点的多态性可能与贵州人群SLE的易感性无关。Objective To investigate the correlation between single nucleotide polymorphism rs13146124 of interferon regulatory factor2（IRF2）on typeⅠinterferon pathway and systemic lupus erythematosus（SLE）in a population from Guizhou Province.Methods The polymorphism IRF2（rs13146124）was detected by using Taqman-PCR in 366 cases of patients with SLE and218 healthy controls.The genotype and allele frequencies were calculated and analyzed.Results The genotype frequencies of AA,AG and GG in IRF2rs13142164 site in patients with SLE were 0.011,0.246 and 0.743 respectively,compared with the control group,the difference was not statistically significant（χ^2=0.093,0.205,0.136;P=0.761,0.651,0.712）.The allele frequencies of A and G in IRF2rs13146124 site in SLE patients were 0.13,0.87 respectively,compared with the control group,the difference was not statistically significant（χ^2=0.071,P=0.790）.There was no significant difference between the allele frequencies of A and G in IRF2rs13146124 site in SLE and ANA,dsDNA and other specific antibodies.There was no correlation between the allele frequencies of A and G in IRF2rs13146124 site in SLE and clinical features such as arthritis,kidney damage,etc.Conclusion The polymorphism of rs13146124 in IRF2may not be associated with SLE in the population from Guizhou Province.

关 键 词：系统性红斑狼疮 干扰素调节因子 基因多态性 

分 类 号：R593.241[医药卫生—内科学] R440[医药卫生—临床医学]