Marrani E, Cimaz R, Lucherini O M, Caputo R, Vitale A, Cantarini L, Simonini G
Paediatric Rheumatology Unit, Anna Meyer Children Hospital, University of Firenze, Florence, Italy.
Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
Pediatr Rheumatol Online J. 2015 Oct 6;13(1):38. doi: 10.1186/s12969-015-0037-5.
The etiology of Autoimmune chronic uveitis (ACU) is still unknown; NOD2/CARD15 gene mutations are responsible for the Blau Syndrome and can induce uveitis in animal models.
Aim of our study was to assess if NOD2/CARD15 variants have a role in the etiology or in the clinical course of patients with ACU, either idiopathic or associated with other inflammatory diseases.
We consecutively enrolled 25 patients (19 pediatric and 6 adults) affected with ACU. For each patient medical history was reviewed and clinical data were recorded. Allelic and genotypic frequencies of NOD2/CARD15 variations were calculated in patients and matched with those of 25 healthy controls. The statistical analysis was performed. Fifteen patients showed the polymorphism P268S/SNP5 (SNP rs2066842) as heterozygous carriers while two patients were homozygous for the same polymorphism; one patient carried also the variant c647 18-16 TCT on intron 3, not previously reported in the literature. Statistical analysis for NOD2/CARD15 genotyping showed significant differences between patients and controls for allelic frequencies (p = 0.04, OR: 4.03, 95 %; CI = 1.2-13.5) but not for genotypic frequencies. We could not identify a significant phenotype-genotype correlation.
In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU.
自身免疫性慢性葡萄膜炎（ACU）的病因仍不清楚；NOD2/CARD15基因突变与布劳综合征有关，并可在动物模型中诱发葡萄膜炎。
我们研究的目的是评估NOD2/CARD15基因变异在特发性或与其他炎症性疾病相关的ACU患者的病因或临床病程中是否起作用。
我们连续招募了25例患有ACU的患者（19例儿童和6例成人）。对每位患者回顾病史并记录临床数据。计算患者中NOD2/CARD15变异的等位基因和基因型频率，并与25名健康对照者的频率进行匹配。进行了统计分析。15例患者为杂合子携带者，表现出多态性P268S/SNP5（SNP rs2066842），而2例患者为同一多态性的纯合子；1例患者还携带内含子3上的变异c647 18-16 TCT，该变异以前在文献中未报道。NOD2/CARD15基因分型的统计分析显示，患者和对照者之间等位基因频率存在显著差异（p = 0.04，OR：4.03，95%；CI = 1.2 - 13.5），但基因型频率无显著差异。我们未能确定显著的表型-基因型相关性。
在我们的意大利患者队列中，NOD2/CARD15常见变异P268S/SNP5可能与ACU有显著关联。
