BLK基因多态性与儿童系统性红斑狼疮及狼疮性肾炎患儿易感性关联分析  

Association analysis between the susceptibility of children with systemic lupus erythematosus and lupus nephritis and the polymorphism of BLK gene

作　　者：潘艳艳[1] 孙永超 Pan Yanyan;Sun Yongchao(Jinan Children's Hospital,Jinan Shandong,250022,China;Jinan Vocational College of Nursing,Jinan Shandong,250022,China)

机构地区：[1]济南市儿童医院,山东济南250022 [2]济南护理职业学院,山东济南250022

出　　处：《中外女性健康研究》2024年第3期1-3,共3页Women＇s Health Research

基　　金：BLK基因多态性与儿童系统性红斑狼疮及狼疮性肾炎患儿易感性关联分析,项目编号:济南市卫生健康委员会科技发展计划2021-1-39。

摘　　要：目的:分析儿童系统性红斑狼疮及狼疮性肾炎患儿易感性与BLK基因多态性关联。方法:回顾性选取2020年1月至2022年2月本院SLE患儿20例作为研究组,对照组:按照与疾病组性别、年龄相匹配的原则选取来自济南市儿童医院健康体检患儿20例。统计分析两组rs2248932C/T多态性等位基因与基因型分布情况,并统计分析研究组不同SLE性质患儿的临床表现。结果:研究组患儿rs2248932C/T多态性等位基因T比率低于对照组,C比率高于对照组(P<0.05),基因型TT比率低于对照组,CT、CC比率均高于对照组(P<0.05),隐性模型(C/CvsC/T+T/T)、主导模型(C/C+C/TvsT/T)比率均高于对照组(P<0.05)。研究组SLE(+)患儿的ANA、血液学异常、关节炎、蝶形红斑、光敏感、抗-dsDNA抗体比率均高于SLE(-)(P<0.05),Sm-抗体、口腔溃疡、盘状红斑、浆膜炎、神经系统紊乱比率均低于SLE(-)(P<0.05)。结论:儿童系统性红斑狼疮及狼疮性肾炎患儿易感性与BLK基因多态性相关。Objective:To analyze the association between the susceptibility of children with systemic lupus erythematosus and lupus nephritis and the polymorphism of BLK gene.Methods:20 children with SLE in our hospital from January 2020 to February 2022 were retrospectively selected as the study group,and 20 children from Jinan Children's Hospital were selected as the control group according to the principle of matching the sex and age of the disease group.The distribution of alleles and genotypes of rs2248932C/T polymorphism in the two groups was statistically analyzed,and the clinical manifestations of children with different SLE properties in the study group were statistically analyzed.Results:The allele T ratio of rs2248932 C/T polymorphism in the study group was lower than that in the control group,the C ratio was higher than that in the control group(P<0.05),the genotype TT ratio was lower than that in the control group,the CT and CC ratios were higher than those in the control group(P<0.05),the recessive model(C/CvsC/T+T/T)and the dominant model(C/C+C/TvsT/T)ratios were higher than those in the control group(P<0.05).The rates of ANA,hematological abnormalities,arthritis,butterfly erythema,photosensitivity,and anti-dsDNA antibody in children with SLE(+)in the study group were higher than those of SLE(-)(P<0.05),while the rates of Sm antibody,oral ulcer,discoid erythema,serositis,and neurological disorders were lower than those of SLE(-)(P<0.05).Conclusion:The susceptibility of children with systemic lupus erythematosus and lupus nephritis is is related to the polymorphism of BLK gene.

关 键 词：儿童系统性红斑狼疮 狼疮性肾炎 易感性 BLK基因多态性 

分 类 号：R593.24[医药卫生—内科学]