title: E-selectin polymorphism in erythema nodosum secondary to sarcoidosis.
abstract: OBJECTIVE
  E-selectin is expressed on cytokine-stimulated endothelial cells and plays an important role in leukocyte-endothelium interactions and inflammatory cell recruitment. An A/C polymorphism at position +561 in the E-selectin gene, which yields an amino acid exchange from serine to arginine at position 128 in the epidermal growth factor-like domain, has been described. We have assessed whether this bi-allelic polymorphism may be implicated in the clinical expression of erythema nodosum (EN) secondary to sarcoidosis.
  
  
  METHODS
  Thirty-one patients with biopsy-proven erythema nodosum (EN) associated with sarcoidosis, 68 patients with biopsy-proven EN related to other etiologies and 66 healthy matched controls from the Lugo region of Northwest Spain were studied. Patients and controls were genotyped for the A/C polymorphism gene by PCR-restriction fragment length polymorphism.
  
  
  RESULTS
  A significantly reduced frequency of the C mutant allele was observed in patients with EN secondary to sarcoidosis compared to controls (p = 0.019) and also compared to patients with EN unrelated to sarcoidosis (p = 0.028). This was also the case when the distribution of genotypes in patients with sarcoidosis was compared with that observed in patients with EN due to other etiologies (p = 0.028) and controls (p = 0.037). This was due to an absence in both C/A heterozygotes and C/C homozygotes in patients with EN secondary to sarcoidosis.
  
  
  CONCLUSIONS
  The present study constitutes the first attempt to assess the influence of E-selectin polymorphism at position +561 in the development of sarcoidosis. The C allele at the +561 position of the E-selectin gene is associated with significantly reduced risk of developing sarcoidosis in patients with EN.
authors.affiliation: Centre for Integrated Genomic Medical Research, School of Epidemiology and Health Sciences, University of Manchester, Manchester, United Kingdom.
authors.forename: M M
authors.initials: MM
authors.lastname: Amoli
authors.forename: J
authors.initials: J
authors.lastname: Llorca
authors.forename: A
authors.initials: A
authors.lastname: Gomez-Gigirey
authors.forename: C
authors.initials: C
authors.lastname: Garcia-Porrua
authors.forename: M
authors.initials: M
authors.lastname: Lueiro
authors.forename: M
authors.initials: M
authors.lastname: El-Magadmi
authors.forename: M L
authors.initials: ML
authors.lastname: Fernandez
authors.forename: W E R
authors.initials: WE
authors.lastname: Ollier
authors.forename: M A
authors.initials: MA
authors.lastname: Gonzalez-Gay
mesh_terms: D000328:Adult; D019040:E-Selectin / Q000235:genetics*; D004893:Erythema Nodosum / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012507:Sarcoidosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D013030:Spain
chemical_list: D019040:E-Selectin