The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, People's Republic of China.
Invest Ophthalmol Vis Sci. 2013 May 9;54(5):3360-5. doi: 10.1167/iovs.13-11615.
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.
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.
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.
These results suggest that JAK1 genetic polymorphisms, but not JAK2 and STAT3, are associated with the susceptibility to VKH syndrome.
Janus 激酶 1（JAK1）、JAK2 和信号转导和转录激活因子 3（STAT3）在 Th1 和 Th17 分化中发挥重要作用，这些因子的基因多态性已被证明与某些自身免疫性疾病有关。本研究旨在评估汉族人群中 JAK1、JAK2 和 STAT3 多态性与 Vogt-Koyanagi-Harada（VKH）综合征之间的关联。
对 737 例汉族 VKH 综合征患者和 809 例汉族健康对照进行病例对照研究。采用 SNP 基因分型系统检测 JAK1 中三个单核苷酸多态性（SNP）（rs310230、rs310236、rs310241）的基因型。采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）分析 JAK2 中三个 SNP（rs10758669、rs7857730、rs10119004）和 STAT3 中四个 SNP（rs6503695、rs744166、rs2293152、rs12948909）。采用 χ2 检验检测 Hardy-Weinberg 平衡（HWE）。通过直接计数估计基因型频率。采用 χ2 检验比较病例组和对照组的等位基因和基因型频率。
所有对照均未偏离 HWE。JAK1 中的三个 SNP，包括 rs310230、rs310236 和 rs310241，与 VKH 综合征显著相关（Pc = 0.008、0.005、0.001）。JAK2 和 STAT3 中未检测到与 VKH 综合征相关的 SNP。根据 VKH 综合征的头痛、听力障碍、脱发、白发和白癜风进行分层分析，未发现相关性。
这些结果表明，JAK1 遗传多态性而非 JAK2 和 STAT3 与 VKH 综合征的易感性相关。
