title: SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis.
abstract: Psoriasis is a multifactorial skin disease characterised by epidermal abnormalities and infiltration by lymphocytes and polymorphonuclear leukocytes (PMN). Skin-derived antileukoproteinase (SKALP), also known as elafin, is a potent inhibitor of human leukocyte elastase and proteinase 3, two PMN-derived proteinases implicated in tissue destruction and leukocyte migration. We have shown that, at least at the protein level, SKALP is significantly decreased in lesional skin of patients with pustular psoriasis compared with plaque-type psoriasis. This finding raised the possibility that SKALP could be one of the candidate genes for pustular forms of psoriasis. We therefore performed single strand conformation polymorphism (SSCP) analysis on the SKALP gene to screen for mutations/polymorphisms in the exons of 30 patients with plaque-type psoriasis, 15 patients with pustular psoriasis and 48 healthy controls. In exon 1 a polymorphism was detected at position +43 relative to the translation start site, resulting in a substitution of threonine for alanine in the signal peptide. In the promoter region a dinucleotide repeat polymorphism was identified. Both polymorphisms were not associated with pustular psoriasis, or psoriasis in general. Our data indicate that the decrease in SKALP activity in pustular psoriasis is not caused by mutations in the coding region of the gene, and that there is no allelic association between pustular psoriasis and SKALP gene polymorphisms.
authors.affiliation: Department of Dermatology, University Hospital Nijmegen, The Netherlands. a.kuijpers@derma.azn.nl
authors.forename: A L
authors.initials: AL
authors.lastname: Kuijpers
authors.forename: R
authors.initials: R
authors.lastname: Pfundt
authors.forename: P L
authors.initials: PL
authors.lastname: Zeeuwen
authors.forename: H O
authors.initials: HO
authors.lastname: Molhuizen
authors.forename: E C
authors.initials: EC
authors.lastname: Mariman
authors.forename: P C
authors.initials: PC
authors.lastname: van de Kerkhof
authors.forename: J
authors.initials: J
authors.lastname: Schalkwijk
mesh_terms: D018900:Dinucleotide Repeats; D005091:Exons; D006801:Humans; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins / Q000235:genetics*; D011565:Psoriasis / Q000235:genetics* / Q000473:pathology; D017422:Sequence Analysis, DNA
chemical_list: D053491:Proteinase Inhibitory Proteins, Secretory; D011506:Proteins