Copy number variants and genetic polymorphisms in TBX21, GATA3, Rorc, Foxp3 and susceptibility to Behcet's disease and Vogt-Koyanagi-Harada syndrome.
Copy number variants and genetic polymorphisms in TBX21, GATA3, Rorc, Foxp3 and susceptibility to Behcet's disease and Vogt-Koyanagi-Harada syndrome.
复制标题
DOI：
10.1038/srep09511
复制
发表时间：
2015-04-15
影响因子：
4.6
通讯作者：
Yang P
中科院分区：
文献类型：
--
作者：
Liao D;Hou S;Zhang J;Fang J;Liu Y;Bai L;Cao Q;Kijlstra A;Yang P
本研究旨在探讨TBX 21、GATA 3、Rorc和Foxp 3基因的单核苷酸多态性（SNP）和拷贝数变异（CNVs）在中国汉族人群白塞病（BD）和Vogt-Koyanagi-Harada（VKH）综合征中的作用。25个SNPs的基因分型采用iPLEX系统（Sequenom）或聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行。TaqMan真实的时间PCR用于评估CNV。实时荧光定量PCR检测Rorc和Foxp 3的表达，ELISA检测细胞因子的产生。高Rorc CNV与BD易感性相关（P = 8.99 × 10−8，OR = 3.0），女性患者中低Foxp 3 CNV易患BD（P = 1.92 × 10−5，OR = 3.1）。研究基因的CNVs在VKH综合征中没有改变。进一步的功能研究表明，在具有高Rorc拷贝数的个体中，Rorc的相对mRNA表达水平增加，但Foxp 3不增加。IL-1β和IL-6的产生在携带Rorc高CNV的个体中被发现增加。我们的研究表明，高CNVs的Rorc和低CNVs的Foxp 3赋予BD的风险，但不是VKH综合征。TBX 21、GATA 3、Rorc和Foxp 3位点的25个SNP与BD和VKH综合征无相关性。
This study aimed to investigate the role of genetic variants including single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) of TBX21, GATA3, Rorc and Foxp3 genes in Behcet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome in a Chinese Han population. Genotyping of 25 SNPs was performed by iPLEX system (Sequenom) or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). TaqMan real time PCR was used to assess CNVs. The expression of Rorc and Foxp3 were examined by real-time PCR and cytokine production was measured by ELISA. High Rorc CNV was associated with the susceptibility to BD (P = 8.99 × 10−8, OR = 3.0), and low Foxp3 CNV predisposed to BD in female patients (P = 1.92 × 10−5, OR = 3.1). CNVs for the investigated genes were not altered in VKH syndrome. Further functional studies demonstrated that the relative mRNA expression levels of Rorc were increased in individuals with high Rorc copy number, but not for Foxp3. Increased production of IL-1β and IL-6 was found in individuals carrying a high CNV of Rorc. Our study showed that high CNVs of Rorc and low CNVs of Foxp3 confer risk for BD but not for VKH syndrome. The tested 25 SNPs in TBX21, GATA3, Rorc and Foxp3 did not associate with BD and VKH syndrome.
登录
查看更多内容
影响因子：
4.5
作者：
Ahn JK;Cha HS;Lee J;Jeon CH;Koh EM
通讯作者：
Koh EM
炎症和年龄相关性白内障患者细胞因子表达的差异
影响因子：
3.7
作者：
Chen W;Lin H;Zhong X;Liu Z;Geng Y;Xie C;Chen W
通讯作者：
Chen W
影响因子：
4.1
作者：
Li, B;Yang, P;Kijlstra, A
通讯作者：
Kijlstra, A
在 Vogt-Koyanagi-Harada 病中，IL-23 促进 CD4 T 细胞产生 IL-17。
影响因子：
14.2
作者：
Chi, Wei;Yang, Peizeng;Kijlstra, Aize
通讯作者：
Kijlstra, Aize
影响因子：
3.3
作者：
Hamzaoui, Kamel;Haghighi, Afshin Borhani;Houman, Habib
通讯作者：
Houman, Habib