JAK1, but Not JAK2 and STAT3, Confers Susceptibility to Vogt-Koyanagi-Harada (VKH) Syndrome in a Han Chinese Population
JAK1, but Not JAK2 and STAT3, Confers Susceptibility to Vogt-Koyanagi-Harada (VKH) Syndrome in a Han Chinese Population
复制标题
JAK1（而非 JAK2 和 STAT3）导致中国汉族人群对 Vogt-小柳-原田 (VKH) 综合征的易感性。
DOI：
10.1167/iovs.13-11615
复制
发表时间：
2013-05-01
影响因子：
4.4
通讯作者：
Yang, Peizeng
中科院分区：
文献类型：
--
作者：
Hu, Ke;Hou, Shengping;Yang, Peizeng
目的
Janus激酶1（JAK 1）、JAK 2和信号转导和转录激活因子3（STAT 3）在Th 1和Th 17分化中起重要作用，这些因子的基因多态性已被证明与某些自身免疫性疾病相关。本研究旨在评估JAK 1、JAK 2和STAT 3基因多态性与中国汉族人群Vogt-Koyanagi-Harada（VKH）综合征的相关性。
方法
对737例中国汉族VKH综合征患者和809例健康对照者进行了病例对照研究。采用SNP基因分型系统对JAK 1基因rs310230、rs310236、rs310241位点进行基因分型。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析JAK 2基因的3个SNP（rs 10758669、rs7857730、rs 10119004）和STAT 3基因的4个SNP（rs6503695、rs744166、rs 2293152、rs 12948909）。Hardy-Weinberg平衡（HWE）采用χ（2）检验。通过直接计数估计基因型频率。采用χ（2）检验比较患者和对照组之间的等位基因和基因型频率。
结果
所有受试质控品均未出现HWE偏离。JAK 1基因rs310230、rs310236和rs310241三个SNP位点与VKH综合征显著相关（Pc分别为0.008、0.005、0.001）。JAK 2和STAT 3的测试SNP均与VKH综合征无关。根据头痛、听力障碍、脱发、白发和白癜风对VKH综合征进行分层分析，未发现相关性。
结论
这些结果表明，JAK 1基因多态性，而不是JAK 2和STAT 3，与VKH综合征的易感性。
PURPOSE
Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. The present study was performed to assess the association between JAK1, JAK2, and STAT3 polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population.
METHODS
A case-control study was performed in 737 Chinese VKH syndrome patients and 809 healthy controls from a Han Chinese population. The genotypes of three single-nucleotide polymorphisms (SNPs) (rs310230, rs310236, rs310241) in JAK1 were performed using an SNP genotyping system. Three SNPs (rs10758669, rs7857730, rs10119004) in JAK2 and four SNPs (rs6503695, rs744166, rs2293152, and rs12948909) in STAT3 were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Hardy-Weinberg equilibrium (HWE) was tested using the χ(2) test. Genotype frequencies were estimated through direct counting. Allele and genotype frequencies were compared between patients and controls using the χ(2) test.
RESULTS
There was no deviation from the HWE in all controls tested. Three SNPs, including rs310230, rs310236, and rs310241, in JAK1 were significantly associated with VKH syndrome (Pc = 0.008, 0.005, 0.001, respectively). None of the tested SNPs of JAK2 and STAT3 was associated with VKH syndrome. Stratification analysis according to headache, dysacusis, alopecia, poliosis, and vitiligo for VKH syndrome did not reveal an association.
CONCLUSIONS
These results suggest that JAK1 genetic polymorphisms, but not JAK2 and STAT3, are associated with the susceptibility to VKH syndrome.