Background: 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. Presentation of the hypothesis: 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. Testing the hypothesis: 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. Implications of the hypothesis: In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU.

The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: A cohort study / E. Marrani, R. Cimaz, O.M. Lucherini, R. Caputo, A. Vitale, L. Cantarini, G. Simonini. - In: PEDIATRIC RHEUMATOLOGY ONLINE JOURNAL. - ISSN 1546-0096. - 13:1(2015), pp. 38.1-38.5. [10.1186/s12969-015-0037-5]

The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: A cohort study

R. Cimaz;
2015

Abstract

Background: 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. Presentation of the hypothesis: 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. Testing the hypothesis: 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. Implications of the hypothesis: In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU.
Paediatric uveitis NOD2/CARD15; Inflammatory eye disease; Intra-ocular inflammation; Chronic autoimmune uveitis; Blau syndrome
Settore MED/16 - Reumatologia
2015
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/728656
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