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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 224381.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Evaluation of the IRF-2 gene as a candidate for PSORS3
Authors:Foerster, John; Nolte, Ilja; Schweiger, Susann; Ehlert, Claudia; Bruinenberg, Marcel; Spaar, Katja; van der Steege, Gerrit; Mulder, Marcel; Kalscheuer, Vera M.; Moser, Bettina; Kijas, Zofia; Seeman, Petra; Ständer, Markward; Sterry, Wolfram; te Meerman, Gerard
Date of Publication (YYYY-MM-DD):2004-01-01
Title of Journal:Journal of Investigative Dermatology
Journal Abbrev.:J. Invest. Dermatol.
Issue / Number:1
Start Page:61
End Page:64
Copyright:Blackwell Synergy®
Review Status:not specified
Audience:Experts Only
Abstract / Description:Type 1 interferon can trigger flares of psoriasis. Hypersensitivity to type 1 interferon signaling causes a psoriasis-like skin disease in mice deficient for the transcription factor interferon regulatory factor 2 (IRF2). The human IRF2 gene is located at a previously identified candidate psoriasis susceptibility locus on chromosome 4q (PSORS3 at D4S1535). Therefore, we tested association of psoriasis with IRF2. We generated a sample consisting of 157 families with a total of 521 individuals. Five novel microsatellite markers were developed and typed, and complemented with three known markers to yield a set of eight markers spaced within 600 kb around the IRF2 gene, three of which are located in the gene. We detected association of IRF2 with type 1 psoriasis at two markers in the IRF2 gene. Haplotype sharing analysis confirmed association of IRF2 with type 1 psoriasis (p=0.0017; pcorr=0.03). The 921G/A SNP in exon 9 was found to obliterate a predicted exon splice enhancer in an allele-specific manner. There was a suggestive increase of homozygosity for the splicing-deficient allele in type 1 psoriasis patients. Our data identify IRF2 as a potential susceptibility gene for psoriasis.
Free Keywords:psoriasis
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Klinik für Dermatologie, Charité, Berlin, Germany;
Department of Medical Genetics and Genotyping Facility, Medical Biology, University of Groningen, The Netherlands; BARMER Ostseeklinik, Seebad Prerow, Germany;
Fachklinik Bad Bentheim, Germany.
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