The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study.
Pediatr Rheumatol Online J
; 13(1): 38, 2015 Oct 06.
Article
em En
| MEDLINE
| ID: mdl-26438151
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 THEHYPOTHESIS:
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 THEHYPOTHESIS:
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 THEHYPOTHESIS:
In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
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Uveíte
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Proteína Adaptadora de Sinalização NOD2
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Mutação
Tipo de estudo:
Etiology_studies
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Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
País como assunto:
Europa
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article