Uveitis is a clinical feature of the Blau syndrome, a disease linked to CARD15 (also referred to as NOD2) mutations. Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features. However, little is known on the involvement of this gene in idiopathic uveitis. We thus sought to determine the frequency of these Blau-related CARD15 mutations in a cohort of Spanish patients with idiopathic uveitis. To this aim, 110 patients with idiopathic uveitis, followed at the Department of Ophtalmology of a tertiary hospital (Hospital Universitario Alcalá de Henares, Madrid. Spain) were enrolled. As a control population, 104 healthy subjects were used. DNA was extracted from blood samples and the Blau-related CARD15 mutations were analysed either by PCR-RFLP or direct DNA sequencing. None of the mutations studied was found in any of the individuals tested, whether diseased or healthy. It seems thus that Blau syndrome-related CARD15 mutations are not involved in idiopathic uveitis, a finding which allows us to suggest that the genetic aetiology of the idiopathic uveitis or the Blau-associated uveitis is different.

中文翻译：

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Blau 综合征相关的 CARD15/NOD2 突变与西班牙患者的特发性葡萄膜炎无关。

葡萄膜炎是 Blau 综合征的临床特征，这是一种与 CARD15（也称为 NOD2）突变相关的疾病。该基因的三个主要突变（R334W、R334Q 和 L469F）已被报告为 Blau 综合征的危险因素，这种疾病以葡萄膜炎为临床特征之一。然而，关于该基因与特发性葡萄膜炎的关系知之甚少。因此，我们试图确定西班牙特发性葡萄膜炎患者队列中这些 Blau 相关 CARD15 突变的频率。为此，招募了 110 名特发性葡萄膜炎患者，这些患者在三级医院（西班牙马德里阿尔卡拉德埃纳雷斯大学医院）眼科接受随访。作为对照人群，使用了 104 名健康受试者。从血液样本中提取 DNA，并通过 PCR-RFLP 或直接 DNA 测序分析 Blau 相关的 CARD15 突变。在任何被测试的个体中，无论是患病的还是健康的，都没有发现所研究的突变。因此，似乎与 Blau 综合征相关的 CARD15 突变与特发性葡萄膜炎无关，这一发现使我们能够表明特发性葡萄膜炎或 Blau 相关葡萄膜炎的遗传病因是不同的。