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Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to Susceptibility to Psoriatic Arthritis in German patients
  1. Ulrike Hüffmeier (uhueffm{at}humgenet.uni-erlangen.de)
  1. Institute of Human Genetics, University Hospital Erlangen, University Erlangen-Nuremberg, Germany
    1. Xavier Estivill
    1. Pompeu Fabra University (UPF), Barcelona, Spain
      1. Eva Riveira-Munoz
      1. Centre for Genomic Regulation and Public Health and Epidemiology Network Biomed. Res. C., Barcelona, Spain
        1. Heiko Traupe
        1. Department of Dermatology, University of Münster, Germany
          1. Jörg Wendler
          1. Rheumatologische Schwerpunktpraxis, Erlangen, Germany
            1. Jörg Lohmann
            1. Psoriasis rehabilitation hospital, Bad Bentheim, Germany
              1. Beate Böhm
              1. Division of Rheumatology, Department of Internal Medicine II, J. W. G. University., Frankfurt/ Main, Germany
                1. Harald Burkhardt
                1. Division of Rheumatology, Department of Internal Medicine II, J. W. G. University., Frankfurt/ Main, Germany
                  1. André Reis (reis{at}humgenet.uni-erlangen.de)
                  1. Institute of Human Genetics, University Hospital Erlangen, University Erlangen-Nuremberg, Germany

                    Abstract

                    Introduction: PSORS4 is a susceptibility locus for psoriasis vulgaris (PsV), a common inflammatory, hyperproliferative skin disorder. Recently, a deletion of two late cornified envelope (LCE) genes within epidermal differentiation complex on chromosome 1 was shown to be enriched in 1,426 PsV patients, suggesting compromised barrier function in deletion carriers. We subsequently confirmed this genetic association in a German cohort.

                    Methods: In order to investigate whether this variant also predisposes to psoriatic arthritis (PsA), we genotyped this deletion and three SNPs in strong linkage disequilibrium with it in a case-control cohort of 650 patients and 937 control individuals of German origin.

                    Results: LCE deletion frequency did not significantly differ between PsA patients and controls (65.0% vs. 65.5%). Similarly, no evidence for association to the three SNPs was observed.

                    Discussion: This is the first non-HLA risk factor predisposing only to skin-type of psoriasis supporting the concept of partially overlapping, but different etiological factors underlying skin and joint manifestations.

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