Transgenic Mouse Models Support HCR as an Effector Gene in the PSORS1 Locus

    June 2004 in “ Human molecular genetics online/Human molecular genetics ”
    Outi Elomaa, Inkeri Majuri, Sari Suomela, Kati Asumalahti, Hong Jiao, Zahra Mirzaei, Björn Rozell, Karin Dahlman-Wright, Johanna Pispa, Juha Kere, Ulpu Saarialho‐Kere
    TLDR The HCR gene contributes to psoriasis risk.
    The study investigated the role of the HCR gene in psoriasis by creating transgenic mice with either a non-risk or risk allele of HCR. Despite appearing phenotypically normal, mice with the risk allele showed gene expression changes similar to those observed in human psoriatic skin, such as upregulation of cytokeratins 6, 16, and 17. These findings suggested that HCR is a significant gene within the PSORS1 locus and that it contributes to psoriasis susceptibility, although it is not solely responsible for the clinical manifestation of the disease.
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