Haplotype sharing analysis identifies a retroviral dUTPase as candidate susceptibility gene for psoriasis

John Foerster, Ilja Nolte, Judith Junge, Marcel Bruinenberg, Susann Schweiger, Katja Spaar, Gerrit van der Steege, Claudia Ehlert, Marcel Mulder, Vera Kalscheuer, Elisa Blumenthal-Barby, Jennifer Winter, Petra Seeman, Markward Stander, Wolfram Sterry, Gerard te Meerman

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    31 Citations (Scopus)


    The psoriasis susceptibility locus 1 (PSORS1) mutation is assumed to reside within a region around human leukocyte antigen-C spanning 250 kb, termed risk haplotype (RH) 1/2. By re-analyzing a published data set with a previously developed method, the haplotype sharing statistic, we confirm localization of PSORS1 to the RH1 region and refine its location to marker M6S168. We replicate this result in an independent patient sample. The target region harbors fragments of a human endogenous retrovirus K (HERV-K) endogenous retrovirus. Two single-nucleotide polymorphisms with alleles differing between high- and low-risk haplotypes are located within the HERV-K dUTPase. One of these encodes a predicted non-conserved Glu–Arg exchange. The HERV-K dUTPase is expressed in peripheral blood and in normal as well as lesional psoriatic skin. Our results indicate that an endogenous retroviral dUTPase constitutes a candidate gene for the PSORS1 mutation.
    Original languageEnglish
    Pages (from-to)99-102
    Number of pages4
    JournalJournal of Investigative Dermatology
    Issue number1
    Publication statusPublished - Jan 2005


    • Psoriasis
    • PSORS1
    • dUTPase
    • Haplotype sharing
    • Human endogenous retrovirus
    • HERV


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