Single-nucleotide Polymorphism and Haplotypes of TNIP1 Associated with Systemic Lupus Erythematosus in a Chinese Han Population
Single-nucleotide Polymorphism and Haplotypes of TNIP1 Associated with Systemic Lupus Erythematosus in a Chinese Han Population
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中国汉族人群系统性红斑狼疮相关TNIP1单核苷酸多态性及单倍型
DOI：
10.3899/jrheum.121391
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发表时间：
2013-09
影响因子：
3.9
通讯作者：
Hao, Fei
中科院分区：
文献类型：
--
作者：
Song, Zhi-Qiang;Yang, Xi-Chuan;Chen, Fang-Ru;Hao, Fei
目标。[目的]探讨系统性红斑狼疮(SLE)与TNIP1基因单核苷酸多态(SNP)的相关性，并比较该基因在中国汉族人群中的表达。方法：研究方法。应用基质辅助激光解吸电离飞行时间质谱仪对中国汉族SLE患者(341例)和对照组(356例)的TNIP1基因19个SNP进行了基因分型。采用共显性模型、显性模型和隐性模型进行基因分型。并进行等位基因频率和连锁不平衡分析。用Western blotting和qRT-PCR方法检测SLE患者和正常对照外周血单个核细胞中这些基因的表达。结果。在我们的人群中，7个SNP基因座与系统性红斑狼疮显著相关(P<；在所有比较中均为0.05)。TnIP1基因的两种单倍型(ATTGCGC和GTCCTAT)与系统性红斑狼疮相关(p=0.0246和p=0.0024)。Western blotting和qRT-PCR结果表明，与对照组相比，SLE患者TNIP1/ABIN-1的表达显著降低。结论。分析TNIP1基因的SNP和该基因在外周血淋巴细胞中的表达，提示这些SNP与中国汉族SLE的发生有关。未来的研究应该考察这些SNP在SLE发病机制中的作用。
Objective. To determine the association of systemic lupus erythematosus (SLE) with single-nucleotide polymorphisms (SNP) in the TNIP1 gene and compare the expression of this gene in cases and controls from a Chinese Han population in this replication study. Methods. Matrix-assisted laser desorption ionization time-of-flight mass spectrometry was used to genotype 19 SNP in TNIP1 in Chinese Han patients with SLE (n = 341) and controls (n = 356). Genotypes were analyzed by codominant, dominant, and recessive models. Analysis of allele frequencies and linkage disequilibrium was also performed. Western blotting and qRT-PCR were used to measure the expression of these genes in peripheral blood mononuclear cells of SLE cases and controls. Results. Seven SNP loci were significantly associated with SLE in our population (p < 0.05 for all comparisons). Two TNIP1 gene haplotypes (ATTGCGC and GTCCTAT) were associated with SLE (p = 0.0246 and p = 0.0024, respectively). Western blotting and qRT-PCR results provide evidence that patients with SLE had significantly reduced expression of TNIP1/ABIN-1 relative to controls. Conclusion. Analysis of SNP in the TNIP1 gene and expression of this gene in peripheral blood lymphocytes indicated these SNP were associated with the occurrence of SLE in Han Chinese patients. Future studies should examine the roles of these SNP in the pathogenesis of SLE.
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影响因子：
6.1
作者：
Jianfeng Xu;DG Wiesch;D. Meyers
通讯作者：
Jianfeng Xu;DG Wiesch;D. Meyers
影响因子：
20.3
作者：
Chu, Yuanyuan;Vahl, J. Christoph;Schmidt-Supprian, Marc
通讯作者：
Schmidt-Supprian, Marc
影响因子：
82.9
作者：
通讯作者：
--
影响因子：
5.4
作者：
Gupta, K;Ott, D;Boeke, JD
通讯作者：
Boeke, JD
影响因子：
56.9
作者：
Lee, EG;Boone, DL;Ma, A
通讯作者：
Ma, A