title: The three most common CARD15 mutations associated with Crohn's disease and the chromosome 16 susceptibility locus for systemic lupus erythematosus.
abstract: OBJECTIVE
  To test if the three most common mutations contributing to Crohn's disease on the CARD15/NOD2 gene could contribute also to genetic susceptibility to systemic lupus erythematosus (SLE), which has been found to be linked to the region of chromosome 16q13 where the CARD15 gene is located.
  
  
  METHODS
  We obtained DNA samples from the blood of 189 SLE patients (according to the American College of Rheumatology classification criteria) and 194 controls of Spanish ancestry. Genotypes for the three CARD15 mutations (3020insC, 2722G>C and 2104C>T) were determined by hybridization with fluorescence resonance energy transfer probes on a LightCycler real-time polymerase chain reaction system.
  
  
  RESULTS
  CARD15 genotypes were similar in SLE patients and in controls from the general population (allelic frequencies for 3020insC 0.013 in SLE patients vs 0.013 in controls; for 2722G > C 0.011 vs 0.008; and for 2104C > T 0.032 vs 0.051).
  
  
  CONCLUSIONS
  We did not find evidence that the Crohn's disease-associated mutations on CARD15 contributed to SLE susceptibility.
authors.affiliation: Research Laboratory 2, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain.
authors.forename: I
authors.initials: I
authors.lastname: Ferreiros-Vidal
authors.forename: J
authors.initials: J
authors.lastname: Garcia-Meijide
authors.forename: P
authors.initials: P
authors.lastname: Carreira
authors.forename: F
authors.initials: F
authors.lastname: Barros
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: J J
authors.initials: JJ
authors.lastname: Gomez-Reino
authors.forename: A
authors.initials: A
authors.lastname: Gonzalez
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D016017:Odds Ratio
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein