SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis
| Autor: | P.C.M. van de Kerkhof, H. O. F. Molhuizen, Edwin C. M. Mariman, Patrick L.J.M. Zeeuwen, Rolph Pfundt, A.L.A. Kuijpers, J. Schalkwijk |
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| Rok vydání: | 2008 |
| Předmět: |
Leukocyte migration
Candidate gene Clinical description and delineation of genetic syndromes The role of proteinases and proteinase inhibitors in epidermal differentiation and inflammation Proteinase Inhibitory Proteins Secretory Antileukoproteinase Biology Polymerase Chain Reaction Exon Proteinase 3 Psoriasis Genetics medicine Humans Dinucleotide Repeats Klinische beschrijving en moleculaire definiëring van genetische syndromen Polymorphism Single-Stranded Conformational Genetics (clinical) Polymorphism Genetic De rol van proteasen en proteaseremmers bij epidermale differentiatie en ontstekingsprocessen Proteins Single-strand conformation polymorphism Exons Sequence Analysis DNA medicine.disease Immunology Elafin |
| Zdroj: | Clinical Genetics, 54, pp. 96-101 Clinical Genetics, 54, 96-101 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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