title: Lack of association of ankylosing spondylitis with the most common NOD2 susceptibility alleles to Crohn's disease.
abstract: OBJECTIVE
  To investigate whether the 3 most common mutations in the NOD2 gene that confer susceptibility to Crohn's disease (CD) are also associated with ankylosing spondylitis (AS).
  
  
  METHODS
  DNA from 112 patients with AS and 168 controls of homogenous Spanish ancestry were studied. The frequencies of the pathogenic alleles of NOD2 (3020insC, 2722G>C, and 2104C>T) were determined by analysis of the melting curves after hybridization with FRET probes on a Light Cycler real-time polymerase chain reaction (PCR) system. Results. NOD2 allelic frequencies in controls (3020insC, 0.009; 2722G>C, 0.009; 2104C>T, 0.042) did not significantly differ from patients with AS (3020insC, 0.009; 2722G>C, 0.004; 2104C>T, 0.031).
  
  
  CONCLUSIONS
  The 3 most common CD NOD2 mutations do not contribute to disease susceptibility to AS, and therefore do not explain the susceptibility locus for AS in chromosome 16q.
authors.affiliation: Research Laboratory 2 and the Rheumatology Unit, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Ferreirós-Vidal
authors.forename: Juan
authors.initials: J
authors.lastname: Amarelo
authors.forename: Francisco
authors.initials: F
authors.lastname: Barros
authors.forename: Angel
authors.initials: A
authors.lastname: Carracedo
authors.forename: Juan J
authors.initials: JJ
authors.lastname: Gómez-Reino
authors.forename: Antonio
authors.initials: A
authors.lastname: Gonzalez
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D003424:Crohn Disease / Q000453:epidemiology / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D053473:Nod2 Signaling Adaptor Protein; D012307:Risk Factors; D013167:Spondylitis, Ankylosing / Q000453:epidemiology / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein