Evaluation of the IRF-2 Gene as a Candidate for PSORS3
| Autor: | Foerster, J., Nolte, I., Schweiger, S., Ehlert, C., Bruinenberg, Marcel, Spaar, K., van der Steege, G., Kalscheuer, V., Moser, B., Kijas, Z., Seeman, P., Stander, M., Sterry, W., Meerman, G.T., Nolte, [No Value], Mulder, M. |
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| Přispěvatelé: | Rijksuniversiteit Groningen, Life Course Epidemiology |
| Rok vydání: | 2004 |
| Předmět: |
Candidate gene
Interferon Regulatory Factor 2 RNA Splicing Human leukocyte antigen Dermatology Biology Polymorphism Single Nucleotide Biochemistry DISEASE REGION Exon Psoriasis medicine Humans DESCENT Genetic Predisposition to Disease POLYPYRIMIDINE TRACT Allele Enhancer Molecular Biology Genetics 4Q 17Q Exons psoriasis Cell Biology medicine.disease GENOME-WIDE SCAN DNA-Binding Proteins Repressor Proteins HLA Haplotypes PSORIASIS SUSCEPTIBILITY LOCI POPULATIONS IRF2 Interferon Regulatory Factor-2 Microsatellite Repeats Transcription Factors |
| Zdroj: | Journal of Investigative Dermatology, 122(1), 61-64. ELSEVIER SCIENCE INC |
| ISSN: | 0022-202X |
| DOI: | 10.1046/j.0022-202x.2003.22104.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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