Possible association of VISA gene polymorphisms with susceptibility to systemic lupus erythematosus in Chinese population
Possible association of VISA gene polymorphisms with susceptibility to systemic lupus erythematosus in Chinese population
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DOI：
10.1007/s11033-010-0590-4
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发表时间：
2011-10-01
影响因子：
2.8
通讯作者：
Zhao, Yueran
中科院分区：
文献类型：
--
作者：
Liu, Xiaowen;Jiao, Yulian;Zhao, Yueran
病毒诱导的信号转导衔接子（VISA）是连接RIG-1和MDA-5与下游信号转导事件的重要衔接蛋白，可能介导NF-κ B和IRFs的激活以及I型IFN的诱导。有证据表明Toll样受体（Toll like receptor，TLRs）、I-IFN和IFN诱导基因参与了系统性红斑狼疮（systemic lupus erythematosus，SLE）的发病过程，本研究旨在探讨VISA基因与SLE发病的可能关系。对123例SLE患者和95名健康对照者VISA基因rs 17857295、rs2326369、rs7262903和rs7269320 4个单核苷酸多态性（SNP）进行基因分型。使用直接测序纯化的PCR产物进行基因分型。相关性分析采用卡方检验和Fisher精确检验。使用haploview和PHASE2.1进行单倍型分析。4个SNPs均未发现与SLE相关。单倍型分析结果显示，病例组与对照组的单倍型效应存在差异。而rs 17857295和rs2326369分别与SLE患者的肾炎和关节炎相关。SNPs rs7269320与不同的临床表现相关。我们的数据表明，VISA基因多态性可能与疾病的易感性和SLE的表现。
Virus-induced signaling adapter (VISA), an important adaptor protein linking both RIG-I and MDA-5 to downstream signaling events, may mediates the activation of NF kappaB and IRFs and the induction of type I IFN. As the evidence has showed that Toll-like receptors (TLRs), I-IFN and IFN-inducible genes contribute to the pathogenesis of systemic lupus erythematosus (SLE), the aim of the current study was to investigate the possible associations between the VISA gene and SLE. Four single nucleotide polymorphisms (SNPs), rs17857295, rs2326369, rs7262903, and rs7269320, in VISA gene were genotyped in 123 SLE patients and 95 healthy controls. Genotyping was performed using direct sequencing the purified PCR products. Associations were analyzed by using the chi-square test and Fisher's exact test. Haplotype analysis was performed using haploview and PHASE2.1. None of the four SNPs was found to be associated with SLE. The four-SNPs haplotype analysis showed different effect between cases and controls. While the SNPs, rs17857295 and rs2326369, were found to be associated with the renal nephritis and arthritis of SLE patient, respectively. The SNPs rs7269320 showed associations with different manifestations. Our data reveal that polymorphisms in the VISA gene may be related to disease susceptibility and manifestations of SLE.