Protective effect of human endogenous retrovirus K dUTPase variants on psoriasis susceptibility

Olivia Y. Lai, Haoyan Chen, Henri-Alexandre Michaud, Genki Hayashi, Peter J. Kuebler, Gustaf K. Hultman, Maria-Eugenia Ariza, Marshall V. Williams, Mariana D. Batista, Douglas F. Nixon, John Foerster, Anne M. Bowcock, Wilson Liao

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    17 Citations (Scopus)


    Previous genetic and functional studies have implicated the human endogenous retrovirus K (HERV-K) dUTPase located within the PSORS1 locus in the major histocompatibility complex region as a candidate psoriasis gene. Here, we describe a variant discovery and case-control association study of HERV-K dUTPase variants in 708 psoriasis cases and 349 healthy controls. Five common HERV-K dUTPase variants were found to be highly associated with psoriasis, with the strongest association occurring at the missense single-nucleotide polymorphism (SNP) rs3134774 (K158R, P=3.28 × 10 , odds ratio =2.36 (95% confidence interval: 1.91-2.92)). After adjusting the association of the HERV-K dUTPase variants for the potential confounding effects of HLA alleles associated with psoriasis, the HERV-K SNPs rs9264082 and rs3134774 remained significantly associated. Haplotype analysis revealed that HERV-K haplotypes containing the non-risk alleles for rs3134774 and rs9264082 significantly reduced the risk of psoriasis. Functional testing showed higher antibody responses against recombinant HERV-K dUTPase in psoriasis patients compared with controls (P
    Original languageEnglish
    Pages (from-to)1833-1840
    Number of pages8
    JournalJournal of Investigative Dermatology
    Issue number7
    Publication statusPublished - 2012


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