TNIP1基因rs7708392多态性的检测及其与系统性红斑狼疮的相关性  

Identification of the Polymorphisms of rs7708392 in TNIP1 Gene and the Association with Systemic Lupus Erythematosus

作　　者：白丽霞[1] 李璐[1] 

机构地区：[1]北京大学深圳医院检验科,广东深圳518036

出　　处：《现代检验医学杂志》2017年第5期66-68,73,共4页Journal of Modern Laboratory Medicine

摘　　要：目的检测TNILP1基因的单核苷酸多态性(SNP),并分析各种基因型与系统性红斑狼疮(SLE)的关联性。方法收集2013～2016年期间北京大学297例符合美国风湿病学诊断标准的SLE患者,和无相关症状的351例健康体检对照者的血液标本,用非标记探针法高分辨率熔解曲线的方法,检测TNIP1基因rs7708392(G/C)位点的多态性。结果TNIP1基因rs7708392位点的多种基因型在非标记探针法高分辨熔解曲线中分辨出来。SLE患者GG,GC,CC三种基因型出现的频率依次为36.0%,51.5%和12.5%,对照组则分别为32.5%,46.7%和20.8%,经卡方检验,两组别基因频率的差异有统计学意义(χ~2=7.940,P=0.019)。次要等位基因(C)的出现与关节炎发病率(P=0.013,OR=0.65,95%CI=0.47～0.92)和异常的核抗体(P=0.022,OR=0.68,95%CI=0.49～0.95)相关。TNIP1基因SNP与SLE其他的诊断标准没有关联。结论在中国人群中,TNIP1基因rs7708392多态性与SLE的疾病风险,SLE诊断指标中的关节炎和抗核抗体相关。Objective To identify the single nucleotide polymorphism （SNP） of the gene of TNIP1 using high resolution melt- ing （HRM） analysis with unlabeled probe,and funther analyse the association with systemic lupus erythematosuscsle. Meth- ods 297 patients that fulfilled the American College of Rheumatology criteria for SLE and 351 ethnically matched healthy controls were recruited from Shenzhen Hospital of Peking University. The association of TNIP1 SNP rs7708392 （G/C） was determined by high resolution melting （HRM） analysis with unlabeled probe in SLE patients and healthy controls. Results HRMA with unlabeled probe successfully distinguished all genotypes. Genotype frequencies of GG,GC and CC among SLE patients were 36.0%, 51. 5% and 12.5%, respectively, while the frequencies among healthy control were 32.5%, 46.7% and 20.8 %. Statistically significant differences were observed in both genotype frequencies for rs7708392 in the SLE patients as compared with the controls. Minor allele （C） of rs7708392 （P=0. 031,OR 0.78,95%0 CI 0.63-0.98） was found to be protective against SLE. The association of SNP rs7708392 with the diagnostic criteria of SLE was also examined. Minor allele （C） exerts protective effect on the incidence of arthritis （P=0. 013,OR=0.65,95% CI=0.47-0.92） and abnormali ties of antinuclear antibody （P= 0. 022, OR= 0.68,95 % CI= 0.49- 0.95）. TNIP1SNPs were irrelevant to other diagnostic criteria of SLE. Conclusion Polymorphisms of rs7708392 in TNIP1 gene were associated with disease risk,as well as arthritis and autoantibody production,of systemic lupus erythematosus in Chinese population.

关 键 词：肿瘤坏死因子α诱导蛋白3相互作用蛋白1 系统性红斑狼疮 高分辨率熔解曲线 

分 类 号：R593.241[医药卫生—内科学] Q786[医药卫生—临床医学]