Academic Journal
Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients
| العنوان: | Evidence for susceptibility determinant(s) to psoriasis vulgaris in or near PTPN22 in German patients |
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| المؤلفون: | Hüffmeier, Ulrike, Steffens, Michael, Burkhardt, Harald, Lascorz, Jesús, Schürmeier-Horst, Funda, Ständer, Markward, Kelsch, Reinhard, Baumann, Claudia, Küster, Wolfgang, Mössner, Rotraut, Reich, Kristian, Wienker, Thomas F., Traupe, Heiko, Reis, André |
| بيانات النشر: | British Medical Journal Publishing Group |
| سنة النشر: | 2005 |
| المجموعة: | HighWire Press (Stanford University) |
| مصطلحات موضوعية: | Original articles |
| الوصف: | Introduction: Variant R620W of protein tyrosine phosphatase non-receptor type 22 ( PTPN22 ) has consistently been reported as susceptibility factor for several autoimmune diseases. We were interested in its role in susceptibility to psoriasis, furthermore whether other disease-causing variants within PTPN22 might exist and whether they act independently from the major risk factor for psoriasis at HLA-C / PSORS1. Methods: R620W was tested in a case control study with an exploratory set of 375 independent German patients and an enlarged sample of 418 additional patients. Analyses were extended to linkage disequilibrium (LD) based haplotypes. Potential interaction between one risk haplotype encompassing PTPN22 and the PSORS1 associated risk allele was tested by regression analysis. PTPN22 coding sequence was determined in 20 patients carrying the risk haplotype. Regression analysis as well as analysis of the strongest associated risk haplotypes were also performed in the extended case control study. Results: R620W was not associated in both case control studies (375/793 patients) while significant association (corrected for multiple testing) with one haplotype (C-4) of the LD block encompassing PTPN22 as well with another haplotype (B-3) within an adjacent telomeric LD block was detected. No evidence for interaction between risk haplotype C-4 and the HLA-C associated risk allele was found. Sequencing excluded other coding variants within PTPN22 as basis for association findings. Analysis of the extended study group confirmed association for haplotypes B-3 and C-4 and independence of risk haplotypes C-4 and PSORS1. Discussion: We exclude a major role of *620W in German psoriasis patients but suggest that (an)other susceptibility determinant(s) within the non-coding regions of PTPN22 or its proximity might exist that act independently from the major PSORS1 risk factor. |
| نوع الوثيقة: | text |
| وصف الملف: | text/html |
| اللغة: | English |
| Relation: | http://jmg.bmj.com/cgi/content/short/jmg.2005.037515v1; http://dx.doi.org/10.1136/jmg.2005.037515 |
| DOI: | 10.1136/jmg.2005.037515 |
| الاتاحة: | http://jmg.bmj.com/cgi/content/short/jmg.2005.037515v1 https://doi.org/10.1136/jmg.2005.037515 |
| Rights: | Copyright (C) 2005, BMJ Publishing Group Ltd |
| رقم الانضمام: | edsbas.49DCE8A9 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1136/jmg.2005.037515 |
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