TNIP1基因多态性与汉族人系统性红斑狼疮相关性研究

摘要/Abstract

摘要： 目的探讨人肿瘤坏死因子α诱导蛋白3（TNFAIP3）相互作用蛋白1（TNIP1）基因多态性与汉族人系统性红斑狼疮（SLE）的遗传关联性。方法收集284例汉族人SLE和630例汉族人对照，选择TNIP1基因区域120个单核苷酸多态性（SNP），利用连接酶检测反应（LDR）对其进行基因分型，对分型数据利用PLINK 1.07和Haploview软件进行统计分析。结果经过数据质控，最终105个SNP的分型数据进入最终统计分析。rs3805433 C、rs12516176 C、rs6869605 C和rs4958882 G的等位基因频率在SLE组（参考等位基因频率0.301 ~ 0.306）高于对照组（参考等位基因频率0.221 ~ 0.225），差异有统计学意义（OR：1.50 ~ 1.53，均P < 4.72 × 10-4）。这4个SNP间存在强连锁不平衡（r2 ≥ 0.871，D′ ≥ 0.938），且与既往报道的SLE相关SNP rs10036748间存在中等程度的连锁不平衡（r2 ≥ 0.073，D′ ≥ 0.868）。单倍型分析发现，单倍型（H2：CCCGT）在病例组中的频率（0.290）显著高于对照组（0.210），差异有统计学意义（OR = 1.54，P < 4.72 × 10-4）。结论 TNIP1基因多态性与汉族人SLE具有相关性。

关键词: 基因, TNIP1

Abstract: Wang Yong, Han Jianwen, Li Hongbin, Alateng Chulu, Sun Zhiqiang, Lyu Xinxiang, Wu Rina Department of Rheumatism, Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China （Wang Y, Li HB）; Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot 010050, China （Han JW, Alateng CL, Sun ZQ, Lyu XX, Wu RN） Corresponding author: Han Jianwen, Email: hanjianwen1981@hotmail.com 【Abstract】 Objective To investigate association between polymorphisms of the tumor necrosis factor α-induced protein 3 （TNFAIP3） interacting protein 1 （TNIP1） gene and systemic lupus erythematosus （SLE） in a Chinese Han population. Methods Blood samples were collected from 284 patients with SLE of Han nationality （SLE group） and 630 healthy controls of Han nationality （control group）. Ligase detection reaction （LDR） was performed to determine the genotypes of 120 single nucleotide polymorphisms （SNPs） in the TNIP1 gene. Data were analyzed with the PLINK 1.07 package and Haploview software. Results After quality control, data on 105 SNPs underwent statistical analysis finally. Four SNPs including rs3805433, rs12516176, rs6869605 and rs4958882 in the TNIP1 gene were significantly associated with SLE （OR: 1.50 - 1.53, all P < 4.72 × 104）, and there was a significant increase in the frequency of rs3805433 C, rs12516176 C, rs6869605 C and rs4958882 G alleles in the SLE group （0.301 - 0.306） compared with the control group （0.221 - 0.225）. There was strong linkage disequilibrium between these 4 SNPs （r2 ≥ 0.871, D′ ≥ 0.938）. In addition, moderate linkage disequilibrium was observed between these 4 SNPs and a previously reported SLE-related SNP rs10036748 （r2 ≥ 0.073, D′ ≥ 0.868）. The frequency of the haplotype H2: CCCGT was significantly higher in the SLE group than in the control group （0.290 vs. 0.210, OR = 1.54, P < 4.72 × 10-4）. Conclusion TNIP1 gene polymorphisms are associated with SLE in Chinese Han population.

王勇韩建文李鸿斌阿拉腾楚鲁孙志强吕新翔乌日娜. TNIP1基因多态性与汉族人系统性红斑狼疮相关性研究[J]. 中华皮肤科杂志, 2016, 49(3): 163-167.doi:

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