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  • Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients

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Clinical and epidemiological research
Concise report
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients
  1. Ulrike Hüffmeier1,
  2. Xavier Estivill2,3,
  3. Eva Riveira-Munoz2,
  4. Heiko Traupe4,
  5. Jörg Wendler5,
  6. Jörg Lohmann6,
  7. Beate Böhm7,
  8. Harald Burkhardt7,
  9. André Reis1
  1. 1Institute of Human Genetics, University Hospital Erlangen, University Erlangen-Nuremberg, Germany
  2. 2Centre for Genomic Regulation (CRG) and Public Health and Epidemiology Network Biomedical Research Center (CIBERESP), Barcelona, Spain
  3. 3Pompeu Fabra University (UPF), Barcelona, Spain
  4. 4Department of Dermatology, University of Münster, Germany
  5. 5Rheumatologische Schwerpunktpraxis, Erlangen, Germany
  6. 6Psoriasis rehabilitation hospital, Bad Bentheim, Germany
  7. 7Division of Rheumatology, Department of Internal Medicine II, Johann Wolfgang Goethe University, Frankfurt am Main, Germany
  1. Correspondence to Professor A Reis, Institute of Human Genetics, University Hospital Erlangen, University of Erlangen-Nuremberg, 91054 Erlangen, Germany; reis{at}humgenet.uni-erlangen.de

Abstract

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.

This paper is freely available online under the BMJ Journals unlocked scheme, see http://ard.bmj.com/info/unlocked.dtl

https://doi.org/10.1136/ard.2009.108951

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    Footnotes

    • Funding Interdisciplinary Centre for Clinical Research (IZKF B32/A8) of the University of Erlangen-Nuremberg, Germany. Research of the laboratory of XE is supported by the Spanish Ministry of Science and Innovation (SAF2008-00357) and by the ‘Generalitat de Catalunya’.

    • Competing interests None.

    • Patient consent Obtained.

    • Ethics approval This study was conducted with the approval of the ethical committees of the University of Erlangen-Nuremberg and of the University of Münster, Germany.

    • Provenance and peer review Not commissioned; externally peer reviewed.

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      Corrections
      BMJ Publishing Group Ltd and European League Against Rheumatism
      Annals of the Rheumatic Diseases 2012; 71 1756-1756 Published Online First: 10 Sep 2012. doi: 10.1136/ard.2010.108951corr1