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NLR 家族基因在白塞病中的遗传变异。

Genetic Variations of NLR family genes in Behcet's Disease.

机构信息

The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology, and Chongqing Eye Institute, Chongqing, P R China.

University Eye Clinic Maastricht, Maastricht, The Netherlands.

出版信息

Sci Rep. 2016 Feb 1;6:20098. doi: 10.1038/srep20098.

DOI:10.1038/srep20098
PMID:26833430
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4735577/
Abstract

This study aimed to investigate whether single nucleotide polymorphisms (SNPs) of five NLR family genes (NOD1, NOD2, NLRP1, NLRP3 and CIITA) are associated with Behcet's disease (BD) in a Chinese Han population. The study was carried out in 950 BD patients and 1440 controls for 19 SNPs in the selected NLR genes. In the first-stage study, significantly decreased frequencies of the CIITA//rs12932187 C allele (Pc = 1.668E-02) and NOD1//rs2075818 G allele (Pc = 4.694E-02) were found in BD patients as compared to controls . After performing a second stage validation study and combination of data we confirmed the association of CIITA//rs12932187 and NOD1//rs2075818 with BD. In CIITA//rs12932187, the frequencies of the CC genotype and C allele were significantly lower in BD than in controls (Pc = 3.331E-06; Pc = 6.004E-07, respectively). In NOD1//rs2075818, the GG genotype and G allele showed significantly decreased frequencies in BD patients when compared to controls (Pc = 1.022E-02; Pc = 6.811E-05, respectively). Functional experiments showed that carriers with the CC genotype in CIITA//rs12932187 had a lower CIITA mRNA expression level and an enhanced IL-10 secretion as compared to GG and CG carriers. This study provides evidence that the CIITA and NOD1 gene are involved in the susceptibility to Behcet's disease.

摘要

本研究旨在探讨中国汉族人群中五个 NLR 家族基因（NOD1、NOD2、NLRP1、NLRP3 和 CIITA）的单核苷酸多态性（SNPs）是否与白塞病（BD）相关。在这项研究中，对 950 名 BD 患者和 1440 名对照者进行了 19 个选定 NLR 基因中的 SNPs 分析。在第一阶段研究中，与对照组相比，BD 患者中 CIITA//rs12932187 C 等位基因（Pc=1.668E-02）和 NOD1//rs2075818 G 等位基因（Pc=4.694E-02）的频率显著降低。在进行第二阶段验证研究和数据合并后，我们证实了 CIITA//rs12932187 和 NOD1//rs2075818 与 BD 的关联。在 CIITA//rs12932187 中，CC 基因型和 C 等位基因在 BD 中的频率明显低于对照组（Pc=3.331E-06；Pc=6.004E-07）。在 NOD1//rs2075818 中，与对照组相比，BD 患者中 GG 基因型和 G 等位基因的频率显著降低（Pc=1.022E-02；Pc=6.811E-05）。功能实验表明，与 GG 和 CG 携带者相比，CIITA//rs12932187 中的 CC 基因型携带者的 CIITA mRNA 表达水平较低，IL-10 分泌增强。本研究提供了证据表明，CIITA 和 NOD1 基因参与了白塞病的易感性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b95/4735577/9de4792f01e0/srep20098-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b95/4735577/30de7e6d93af/srep20098-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b95/4735577/9de4792f01e0/srep20098-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b95/4735577/30de7e6d93af/srep20098-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b95/4735577/9de4792f01e0/srep20098-f2.jpg

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