Alopecia Areata Susceptibility Variant in MHC Region Impacts Expressions of Genes Contributing to Hair Keratinization and Is Involved in Hair Loss

    July 2020 in “ EBioMedicine ”
    Akira Oka, Atsushi Takagi, Etsuko Komiyama, Nagisa Yoshihara, Shuhei Mano, Kazuyoshi Hosomichi, Shingo Suzuki, Yuko Haida, Nami Motosugi, Tomomi Hatanaka, Minoru Kimura, Mahoko Takahashi Ueda, So Nakagawa, Hiromi Miura, Masato Ohtsuka, Masayuki Tanaka, Tomoyoshi Komiyama, Asako Otomo, Shinji Hadano, Tomotaka Mabuchi, Stephan Beck, Hidetoshi Inoko, Shigaku Ikeda
    TLDR A gene variant increases the risk of a type of hair loss by affecting hair protein production.
    The study identified a susceptibility variant (rs142986308) in the MHC region that impacted the expression of genes involved in hair keratinization, contributing to alopecia areata (AA). Researchers analyzed 171 AA patients and 560 controls, finding a significant association with the variant, which altered the coiled-coil structure of the CCHCR1 protein, leading to hair loss. Functional analysis using CRISPR/Cas9 in mice showed that the variant induced hair loss, with 55.5% of homozygous mice displaying hair loss patches. The findings highlighted the role of genetic factors in the MHC region in AA pathogenesis and suggested potential targets for therapeutic intervention.
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