Document Detail


SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis.
MedLine Citation:
PMID:  9727750     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
A L Kuijpers; R Pfundt; P L Zeeuwen; H O Molhuizen; E C Mariman; P C van de Kerkhof; J Schalkwijk
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinical genetics     Volume:  54     ISSN:  0009-9163     ISO Abbreviation:  Clin. Genet.     Publication Date:  1998 Jul 
Date Detail:
Created Date:  1998-11-03     Completed Date:  1998-11-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  DENMARK    
Other Details:
Languages:  eng     Pagination:  96-101     Citation Subset:  IM    
Affiliation:
Department of Dermatology, University Hospital Nijmegen, The Netherlands. a.kuijpers@derma.azn.nl
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MeSH Terms
Descriptor/Qualifier:
Dinucleotide Repeats
Exons
Humans
Polymerase Chain Reaction
Polymorphism, Genetic*
Polymorphism, Single-Stranded Conformational
Proteinase Inhibitory Proteins, Secretory
Proteins / genetics*
Psoriasis / genetics*,  pathology
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Proteinase Inhibitory Proteins, Secretory; 0/Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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