JAK2 and STAT3 Polymorphisms in a Han Chinese Population with Behcet's Disease
JAK2 and STAT3 Polymorphisms in a Han Chinese Population with Behcet's Disease
复制标题
DOI：
10.1167/iovs.11-8440
复制
发表时间：
2012-01-01
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2（JAK 2）和信号转导和转录激活因子3（STAT 3）多态性已被证明是许多自身免疫性疾病的常见危险因素。本研究旨在探讨JAK 2和STAT 3基因多态性与中国汉族人群白塞病（BD）的相关性。对503例BD患者和615例健康对照者进行了病例对照研究。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3个单核苷酸多态性（rs 10758669、rs7857730、rs 10119004）和STAT 3基因4个单核苷酸多态性（rs6503695、rs744166、rs 2293152、rs 12948909）的基因型。总的来说，10%的样品进行测序，以验证PCR-RFLP的结果。采用卡方检验比较等位基因和基因型分布，多重比较采用Bonferroni校正。在所有检测的对照中均未发现偏离Hardy-Weinberg平衡。在BD患者中观察到STAT 3 rs 2293152的GG基因型频率显著增加（Bonferroni校正的P值= 0.021）。JAK 2基因的SNPs均与BD无关。根据口腔溃疡、生殖器溃疡、皮肤病变和关节炎对BD进行分层分析，未发现相关性。这些结果表明，STAT 3基因多态性与BD的易感性。（Invest Ophthalmol维斯科学。2012;53：538-541）DOI：10.1167/iovs.11-8440
PURPOSE. Janus kinase 2 (JAK2) and signal transducer and activator of transcription 3 (STAT3) polymorphisms have been demonstrated as a common risk factor for a number of autoimmune diseases. The aim of this study was to investigate the association of JAK2 and STAT3 polymorphisms with Behcet's disease (BD) in a Han Chinese population.METHODS. A case-control study was performed in 503 Chinese patients with BD and 615 healthy controls. The genotypes of three single-nucleotide polymorphisms (SNPs) (rs10758669, rs7857730, rs10119004) in the JAK2 and four SNPs (rs6503695, rs744166, rs2293152, and rs12948909) in the STAT3 gene were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). In all, 10% of the samples were sequenced to validate the result of PCR-RFLP. The chi(2) test was performed to compare allele and genotype distributions and Bonferroni correction was applied for multiple comparisons.RESULTS. A deviation from the Hardy-Weinberg equilibrium was not found in all controls tested. A significantly increased frequency of the GG genotype of the STAT3 rs2293152 was observed in patients with BD (Bonferroni-corrected P value = 0.021). None of the tested SNPs of JAK2 was associated with BD. Stratification analysis according to oral ulceration, genital ulceration, skin lesions, and arthritis for BD did not reveal an association.CONCLUSIONS. These results suggest that a STAT3 genetic polymorphism is associated with the susceptibility to BD. (Invest Ophthalmol Vis Sci. 2012;53:538-541) DOI:10.1167/iovs.11-8440