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  Evaluation of the IRF-2 gene as a candidate for PSORS3

Foerster, J., Nolte, I., Schweiger, S., Ehlert, C., Bruinenberg, M., Spaar, K., et al. (2004). Evaluation of the IRF-2 gene as a candidate for PSORS3. Journal of Investigative Dermatology, 122(1), 61-64. doi:10.1046/j.0022-202X.2003.22104.x.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8908-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8909-6
Genre: Journal Article
Alternative Title : J. Invest. Dermatol.

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 Creators:
Foerster, John, Author
Nolte, Ilja, Author
Schweiger, Susann1, Author              
Ehlert, Claudia, Author
Bruinenberg, Marcel, Author
Spaar, Katja, Author
van der Steege, Gerrit, Author
Mulder, Marcel, Author
Kalscheuer, Vera M.2, Author              
Moser, Bettina3, Author
Kijas, Zofia3, Author
Seeman, Petra3, Author
Ständer, Markward, Author
Sterry, Wolfram, Author
te Meerman, Gerard, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              
3Max Planck Society, ou_persistent13              

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Free keywords: psoriasis
 Abstract: 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.

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Language(s): eng - English
 Dates: 2004-01-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 224381
DOI: 10.1046/j.0022-202X.2003.22104.x
 Degree: -

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Title: Journal of Investigative Dermatology
  Alternative Title : J. Invest. Dermatol.
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 122 (1) Sequence Number: - Start / End Page: 61 - 64 Identifier: ISSN: 1523-1747