title: Functional MASP2 single nucleotide polymorphism plays no role in psoriasis.
abstract: BACKGROUND
  Psoriasis is a heritable disease and genome-wide scans have implicated several loci of susceptibility. The gene for MASP-2, a protease involved in complement activation, is located within one of these loci on chromosome 1p.
  
  
  OBJECTIVE
  To assess whether partial or total MASP-2 deficiency is a risk factor for developing psoriasis.
  
  
  METHODS
  We screened a cohort of patients affected by plaque psoriasis and their parents by restriction fragment length polymorphism analyses.
  
  
  RESULTS
  We detected a single nucleotide polymorphism that leads to an amino acid exchange, which results in dissociation of MASP-2 from a carbohydrate recognition complex.
  
  
  CONCLUSIONS
  We show that this mutant allele is not associated with psoriasis. There was no favoured transmission from parents to affected offspring. The calculated allele frequency in this psoriasis group (Scottish and English) was 0.0326, and in the unaffected group 0.0379.
authors.affiliation: Department Infection, Immunity and Inflammation, University of Leicester, Leicester LE1 9HN, UK. cms13@le.ac.uk
authors.forename: C
authors.initials: C
authors.lastname: Stover
authors.forename: S
authors.initials: S
authors.lastname: Barrett
authors.forename: N J
authors.initials: NJ
authors.lastname: Lynch
authors.forename: J N W N
authors.initials: JN
authors.lastname: Barker
authors.forename: D
authors.initials: D
authors.lastname: Burden
authors.forename: R
authors.initials: R
authors.lastname: Trembath
authors.forename: W
authors.initials: W
authors.lastname: Schwaeble
authors.forename: C
authors.initials: C
authors.lastname: Veal
mesh_terms: D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D050606:Mannose-Binding Protein-Associated Serine Proteases; D010290:Parents; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D011565:Psoriasis / Q000235:genetics*; D012697:Serine Endopeptidases / Q000172:deficiency / Q000235:genetics*
chemical_list: C105296:MASP2 protein, human; D050606:Mannose-Binding Protein-Associated Serine Proteases; D012697:Serine Endopeptidases