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

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...

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Detalles Bibliográficos
Autores principales: Marrani, E., Cimaz, R., Lucherini, O M, Caputo, R., Vitale, A., Cantarini, L., Simonini, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595328/
https://www.ncbi.nlm.nih.gov/pubmed/26438151
http://dx.doi.org/10.1186/s12969-015-0037-5
Descripción
Sumario: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.