Takano Yuko, Niimi Takashi, Sato Shigeki, Yamada Noriko, Achiwa Hiroyuki, Maeda Hiroyoshi, Oguri Tetsuya, Bessho Yuji, Miyazaki Mikinori, Maeno Ken, Ozasa Hiroaki, Ueda Ryuzo
Department of Medical Oncology and Immunology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Sarcoidosis Vasc Diffuse Lung Dis. 2007 Sep;24(2):102-5.
FOXP3 is a critical regulator of the development and function of regulatory T (Treg) cells, which are capable of suppressing immune responses. A recent study showed that the presence of the (GT) n microsatellite polymorphism in the FOXP3 gene was associated with enhancer activity, resulting in an effect on type I diabetes mellitus. Furthermore, sarcoidosis reportedly increases the prevalence of Treg cells in bronchoalveolar lavage fluid and peripheral blood. Because Treg cells may play roles in immune responses in sarcoidosis, in this study we investigated whether the FOXP3 gene polymorphism affects sarcoidosis.
One hundred and eight sarcoidosis patients and 100 healthy control subjects were studied. PCR-based fragment analysis combined with fluorescent technology were used to determine the FOXP3 (GT)n genotype.
We found that the genotype distribution did not differ between sarcoidosis patients and healthy controls. Among sarcoidosis patients, the prevalence of the (GT)15 allele was higher in patients without skin lesions than in patients with skin lesions (p = 0.037, odds ratio = 2.96, 95% confidence interval: 1.07-8.24).
Although the FOXP3 gene polymorphism has no effect on susceptibility to sarcoidosis, the (GT)15 allele may exert protective effects against skin involvement.
FOXP3是调节性T（Treg）细胞发育和功能的关键调节因子，Treg细胞能够抑制免疫反应。最近一项研究表明，FOXP3基因中（GT）n微卫星多态性的存在与增强子活性相关，从而对I型糖尿病产生影响。此外，据报道结节病会增加支气管肺泡灌洗液和外周血中Treg细胞的患病率。由于Treg细胞可能在结节病的免疫反应中发挥作用，因此在本研究中，我们调查了FOXP3基因多态性是否影响结节病。
对108例结节病患者和100名健康对照者进行了研究。采用基于聚合酶链反应（PCR）的片段分析结合荧光技术来确定FOXP3（GT）n基因型。
我们发现结节病患者和健康对照者之间的基因型分布没有差异。在结节病患者中，无皮肤病变患者的（GT）15等位基因患病率高于有皮肤病变患者（p = 0.037，优势比 = 2.96，95%置信区间：1.07 - 8.24）。
虽然FOXP3基因多态性对结节病易感性没有影响，但（GT）15等位基因可能对皮肤受累具有保护作用。
