Department of Dermatology and the Department of Endocrinology and Metabolism, Southwest Hospital, Third Military Medical University, Chongqing, China.
J Rheumatol. 2013 Sep;40(9):1535-44. doi: 10.3899/jrheum.121391. Epub 2013 Jul 15.
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.
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.
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.
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.
确定系统性红斑狼疮（SLE）与 TNIP1 基因中单核苷酸多态性（SNP）的关联，并在这项复制研究中比较中国汉族病例和对照人群中该基因的表达。
采用基质辅助激光解吸电离飞行时间质谱技术对 341 例汉族 SLE 患者和 356 例对照者的 TNIP1 基因中的 19 个 SNP 进行基因分型。通过共显性、显性和隐性模型分析基因型。还进行了等位基因频率和连锁不平衡分析。采用 Western blot 和 qRT-PCR 检测 SLE 病例和对照者外周血单个核细胞中这些基因的表达。
在我们的人群中，有 7 个 SNP 位点与 SLE 显著相关（所有比较的 p 值均<0.05）。两个 TNIP1 基因单倍型（ATTGCGC 和 GTCCTAT）与 SLE 相关（p=0.0246 和 p=0.0024）。Western blot 和 qRT-PCR 结果提供了证据表明，与对照者相比，SLE 患者的 TNIP1/ABIN-1 表达明显降低。
对 TNIP1 基因中的 SNP 进行分析以及对外周血淋巴细胞中该基因的表达进行分析表明，这些 SNP 与汉族患者 SLE 的发生有关。未来的研究应探讨这些 SNP 在 SLE 发病机制中的作用。
