Laboratory of Dermatology, Department of Medicine, University of Crete, Heraklion, Crete, Greece.
Hum Immunol. 2009 Sep;70(9):738-41. doi: 10.1016/j.humimm.2009.05.008. Epub 2009 Jun 17.
Recent genome-wide association studies (GWAS) of many complex diseases have successfully identified novel susceptibility loci, with many of them being associated with more than one condition. Taking into consideration that different autoimmune diseases may share some common pathogenetic pathways, we hypothesized that STAT4, a susceptibility gene found to be associated with increased risk for systemic lupus erythematosus, rheumatoid arthritis, type 1 diabetes, Sjögren's syndrome, Wegener's granulomatosis, Crohn's disease, and ulcerative colitis may also have a role in psoriasis. Psoriasis is an autoimmune, chronic inflammatory skin disease. Here we performed a case-control study in the population of island of Crete and demonstrated for the first time the association of a STAT4 single nucleotide polymorphism (SNP) with susceptibility to psoriasis, thus suggesting a putative key role of STAT4 in multiple autoimmune diseases. We found that mutated allele T of the STAT4 rs7574865 SNP, which previously was implicated in the predisposition to many autoimmune diseases, were more common in individuals with psoriasis than in controls (p = 0.045, odds ratio = 1.42, 95% confidence interval 1.01-2.00), thus concluding that the polymorphism examined is associated with the development of psoriasis in our population.
最近对许多复杂疾病的全基因组关联研究 (GWAS) 成功地确定了新的易感性基因座,其中许多基因座与不止一种疾病相关。考虑到不同的自身免疫性疾病可能具有一些共同的发病途径,我们假设 STAT4 是与系统性红斑狼疮、类风湿关节炎、1 型糖尿病、干燥综合征、韦格纳肉芽肿病、克罗恩病和溃疡性结肠炎的风险增加相关的易感性基因,也可能在银屑病中起作用。银屑病是一种自身免疫性、慢性炎症性皮肤病。在这里,我们在克里特岛人群中进行了一项病例对照研究,首次证明 STAT4 单核苷酸多态性 (SNP) 与银屑病易感性相关,因此表明 STAT4 在多种自身免疫性疾病中具有潜在的关键作用。我们发现,先前与许多自身免疫性疾病易感性相关的 STAT4 rs7574865 SNP 的突变等位基因 T 在银屑病患者中比在对照组中更为常见(p=0.045,优势比=1.42,95%置信区间 1.01-2.00),因此可以得出结论,在我们的人群中,所研究的多态性与银屑病的发生有关。