Association Between SQSTM1 Dysregulation and Risk in Alopecia Areata: A Mendelian Randomization Study

    November 2025 in “ Figshare
    Lifang Hu (841297), Sheng Wan (1665421), Xiuzu Song (9318979)
    TLDR SQSTM1 is linked to increased risk of alopecia areata.
    This study investigates the link between metabolic reprogramming-related genes and alopecia areata (AA), an autoimmune disease causing hair loss. Using data from the GeneCards and OpenGWAS databases, six genes, including SQSTM1, were found to have significant causal associations with AA. The study utilized RT-qPCR and immunofluorescence assays, revealing elevated SQSTM1 mRNA and protein levels in AA-affected hair follicles compared to healthy controls. These findings highlight the role of SQSTM1 in AA, contributing to a deeper understanding of the disease's pathophysiology and potentially guiding precision management strategies.
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