title: The common NOD2/CARD15 variant P268S in patients with non-infectious uveitis: a cohort study.
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.
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  In our cohort of Italian patients, the NOD2/CARD15 common variant P268S/SNP5 could potentially be significantly associated with ACU.
authors.affiliation: Paediatric Rheumatology Unit, Anna Meyer Children Hospital, University of Firenze, Florence, Italy. edoardo.marrani@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Marrani
authors.affiliation: Paediatric Rheumatology Unit, Anna Meyer Children Hospital, University of Firenze, Florence, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Cimaz
authors.affiliation: Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: O M
authors.initials: OM
authors.lastname: Lucherini
authors.affiliation: Paediatric Ophthalmology Unit, Anna Meyer Children Hospital, University of Firenze, Florence, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Caputo
authors.affiliation: Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Vitale
authors.affiliation: Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Rheumatology Unit, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Cantarini
authors.affiliation: Paediatric Rheumatology Unit, Anna Meyer Children Hospital, University of Firenze, Florence, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Simonini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D011110:Polymorphism, Genetic; D014605:Uveitis / Q000235:genetics*; D055815:Young Adult
chemical_list: D053473:Nod2 Signaling Adaptor Protein