Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients
| العنوان: | Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients |
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| المؤلفون: | Xavier Estivill, Jörg Wendler, Beate Böhm, Ulrike Hüffmeier, Jörg Lohmann, Harald Burkhardt, André Reis, Eva Riveira-Muñoz, Heiko Traupe |
| المصدر: | Annals of the Rheumatic Diseases |
| بيانات النشر: | BMJ Group, 2009. |
| سنة النشر: | 2009 |
| مصطلحات موضوعية: | Adult, Male, Linkage disequilibrium, Adolescent, Immunology, Arthritis, Single-nucleotide polymorphism, General Biochemistry, Genetics and Molecular Biology, Linkage Disequilibrium, Cornified envelope, Psoriatic arthritis, Young Adult, Rheumatology, Gene Frequency, Cornified Envelope Proline-Rich Proteins, Psoriasis, Germany, Immunology and Allergy, Medicine, Humans, Genetic Predisposition to Disease, Genetic association, Genetics, business.industry, Haplotype, Arthritis, Psoriatic, Clinical and Epidemiological Research, medicine.disease, Case-Control Studies, Female, business, Gene Deletion |
| الوصف: | Introduction Psoriasis susceptibility locus 4 (PSORS4) is a susceptibility locus for psoriasis vulgaris (PsV), a common inflammatory, hyperproliferative skin disorder. Recently, a deletion of 2 late cornified envelope ( LCE ) genes within epidermal differentiation complex on chromosome 1 was shown to be enriched in 1426 patients with PsV, suggesting compromised barrier function in deletion carriers. This genetic association was subsequently confirmed in a German cohort. Methods In order to investigate whether this variant also predisposes to psoriatic arthritis (PsA), this deletion and 3 single nucleotide polymorphisms (SNPs) in strong linkage disequilibrium with it were genotyped in a case-control cohort of 650 patients and 937 control individuals of German origin. Results LCE deletion frequency did not significantly differ between patients with PsA and controls (65.0% vs 65.5%). Similarly, no evidence for association to the three SNPs was observed. Discussion This is the first non-human leucocyte antigen (HLA) risk factor predisposing only to skin type of psoriasis, supporting the concept of partially overlapping but different aetiological factors underlying skin and joint manifestations. |
| اللغة: | English |
| تدمد: | 1468-2060 0003-4967 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::916a328cf5b02d292890957f4351a605Test http://europepmc.org/articles/PMC2925148Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....916a328cf5b02d292890957f4351a605 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14682060 00034967 |
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