[1]白丽霞,李 璐.TNIP1基因rs7708392多态性的检测及其与系统性红斑狼疮的相关性[J].现代检验医学杂志,2017,32(05):66-68，73.[doi:10.3969/j.issn.1671-7414.2017.05.017]
　BAI Li-xia,LI Lu.Identification of the Polymorphisms of rs7708392 in TNIP1 Gene and the Association with Systemic Lupus Erythematosus[J].Journal of Modern Laboratory Medicine,2017,32(05):66-68，73.[doi:10.3969/j.issn.1671-7414.2017.05.017]
点击复制

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

《现代检验医学杂志》[ISSN:/CN:]

卷:
第32卷
期数:
2017年05期
页码:
66-68，73
栏目:
论著
出版日期:
2017-11-02

文章信息/Info

Title:
Identification of the Polymorphisms of rs7708392 in TNIP1 Gene and the Association with Systemic Lupus Erythematosus
文章编号:
1671-7414(2017)05-066-04
作者:
白丽霞; 李 璐
北京大学深圳医院检验科,广东深圳 518036
Author(s):
BAI Li-xia; LI Lu
Department of Clinical Laboratory, Shenzhen Hospital of Peking University,Guangdong Shenzhen 518036,China
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; Q786
DOI:
10.3969/j.issn.1671-7414.2017.05.017
文献标志码:
A
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(χ2=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。
Abstract:
Abstract:Objective To identify the single nucleotide polymorphism(SNP)of the gene of TNIP1 using high resolution melting(HRM)analysis with unlabeled probe,and funther analyse the association with systemic lupuserythematosuscsle.Methods 297 patients that fulfilled the American College of Rheumatology criteria for SLE and 351 ethnically matchedhealthy 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 distinguishedall 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% 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 abnormalities 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 wereassociated with disease risk,as well as arthritis and autoantibody production,of systemic lupus erythematosus in Chinese population.

参考文献/References:

[1] 严静霞,高丽霞,吴 霞,等,Th17细胞在系统性红斑狼疮伴发心血管疾病中的意义探讨[J].现代检验医学杂志,2014,29(6):52-54,58. Yan JX,Gao LX,Wu X,et al.Evaluate the significance of Th17 cellsin systemic lupuserythematosus with cardiovascular disease[J].Journal of Modern Laboratory Medicine,2014,29(6):52-54,58.
[2] 张玲英,洪 华,叶长林,等,系统性红斑狼疮患者肿瘤坏死因子,白介素8水平及意义[J].现代检验医学杂志,2005,20(1):67-68. Zhang LY,Hong H,Ye CL,et al.The level and significance of TNF-α and IL-8 in systemic lupus erythematosus patients[J].Journal of Modern Laboratory Medicine,2005,20(1):67-68.
[3] Graham RR,Hom G,Ortmann W,et al.Review of recent genome-wide association scans in lupus[J].J Intern Med,2009,265(6):680-688.
[4] He CF,Liu YS,Cheng YL,et al.TNIP1,SLC15A4,ETS1,RasGRP3 and IKZF1 are associated with clinical features of systemic lupus erythematosus in a Chinese Han population[J].Lupus,2010,19(10):1181-1186.
[5] Verstrepen L,Carpentier I,Verhelst K,et al.ABINs:A20 binding inhibitors of NF-kappa B and apoptosis signaling[J].Biochem Pharmacol,2009,78(2):105-114.
[6] Hochberg MC.Updating the american college of rheu-matology revised criteria for the classification of systemic lupus erythematosus[J].Arthritis Rheum,1997,40(9):1725.
[7] Montgomery J,Wittwer CT,Palais R,et al.Simultaneous mutation scanningand genotyping by high-resolution DNA melting analysis[J].Nat Protoc,2007,2(1):59-66.
[8] 覃彦平,秦 雪,曹 昭,等.广西肝癌人群IL-23 Rrs11805303位点单核苷酸多态性相关性分析[J].现代检验医学杂志,2014,29(1):51-53. Qin YP,Qin X,Cao Z,et al.Correlation of polymorphism of IL-23Rgene rs11805303 loci with susceptibility to hepatocellular carcinoma in Guangxi[J].Journal of Modern Laboratory Medicine,2014,29(1):51-53.
[9] Gateva V, Sandling JK, Hom G,et al.A large-scale replication study identifies TNIP1,PRDM1,JAZF1,UHRF1BP1 and IL-10 as risk loci for systemic lupuserythematosus[J].Nat Genet,2009,41(11):1228-1233.
[10] Kawasaki A,Ito S,Furukawa H,et al.Association of TNFAIP3 interacting protein 1,TNIP1 with systemic lupus erythematosus in a Japanese population:a case-control association study[J].Arthritis Res Ther,2010,12(5):R174.

相似文献/References:

[1]曹小燕,付 坤,叶 青,等.SLE患者的血清载脂蛋白M表达水平与疾病活动相关性研究[J].现代检验医学杂志,2017,32(01):138.[doi:10.3969/j.issn.1671-7414.2017.01.038]
　CAO Xiao-yan,FU Kun,YE Qing,et al.Correlation between Serum Apolipoprotein M Expression and Disease Activity in Patients with SLE[J].Journal of Modern Laboratory Medicine,2017,32(05):138.[doi:10.3969/j.issn.1671-7414.2017.01.038]
[2]王 坤,贾兴旺,董 矜,等.血清脂蛋白相关磷脂酶A2和胱抑素C联合检测对SLE患者并发狼疮性肾炎的风险评估[J].现代检验医学杂志,2017,32(04):6.[doi:10.3969/j.issn.1671-7414.2017.04.002]
　WANG Kun,JIA Xing-wang,DONG Jin,et al.Risk Assessment of Combined Detection of Lipoprotein Associated Phospholipase A2 and Cystatin C for Lupus Nephritis in Patients with Systemic Lupus Erythematosus[J].Journal of Modern Laboratory Medicine,2017,32(05):6.[doi:10.3969/j.issn.1671-7414.2017.04.002]
[3]张敏杰,张 阳,徐 丹,等.中国人群EB病毒感染与系统性红斑狼疮相关性的Meta分析[J].现代检验医学杂志,2018,33(01):25.[doi:10.3969/j.issn.1671-7414.2018.01.001]
　ZHANG Min-jie,ZHANG Yang,XU Dan,et al.Association between Epstein-Barr Virus Infection and Systemic Lupus Erythematosus in Chinese Population:A Meta-Analysis[J].Journal of Modern Laboratory Medicine,2018,33(05):25.[doi:10.3969/j.issn.1671-7414.2018.01.001]
[4]陈芳芳a,张群燕b,邢 婕a,等.SLE患者外周血中性粒细胞CD64指数在鉴别并发细菌感染与疾病活动期的临床价值[J].现代检验医学杂志,2018,33(03):14.[doi:10.3969/j.issn.1671-7414.2018.03.005]
　CHEN Fang-fanga,ZHANG Qun-yanb,XING Jiea,et al.Clinical Value of Peripheral Blood Neutrophil CD64 Index in Identifying SLE Complicated with Bacterial Infection and Active SLE[J].Journal of Modern Laboratory Medicine,2018,33(05):14.[doi:10.3969/j.issn.1671-7414.2018.03.005]
[5]王结珍,梁培松,王伟佳,等.系统性红斑狼疮患者外周血RDW-CV和PLT/NEUT%与相关免疫学指标及病情活动度的相关性[J].现代检验医学杂志,2019,34(03):131.[doi:10.3969/j.issn.1671-7414.2019.03.033]
　WANG Jie-zhen,LIANG Pei-song,WANG Wei-jia,et al.Correlation Analysis of Peripheral Blood RDW-CV,PLT/NEUT%,Related Immunological Indexes and Disease Activityin Systemic Lupus Erythematosus Patients[J].Journal of Modern Laboratory Medicine,2019,34(05):131.[doi:10.3969/j.issn.1671-7414.2019.03.033]

备注/Memo

备注/Memo:
作者简介:白丽霞(1975-),女,主管技师,E-mail:bailixia1102@163.com。
更新日期/Last Update: 1900-01-01