Genetic Susceptibility to Alopecia

    February 2019 in “ The New England Journal of Medicine ”
    Jouni Uitto
    Image of study
    TLDR Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
    In 2019, Malki et al. conducted a study on the genetic factors contributing to Central Centrifugal Cicatricial Alopecia (CCCA), a type of scarring alopecia common in women of African descent. They sequenced the exomes of 16 women with CCCA and found that 5 had heterozygous mutations in the PADI3 gene, which is crucial for hair protein modification. Dysregulated gene expression related to hair formation was also observed in CCCA patients. In a larger group of 42 additional patients, 9 more PADI3 mutations were identified, indicating that 24% of the 58 patients studied had PADI3 mutations. The study suggests a genetic predisposition to CCCA through PADI3 mutations, potentially aggravated by certain hairstyling practices. It also notes the gene's role in different hair conditions, such as uncombable hair syndrome. However, the research acknowledges that other genetic factors are likely involved in CCCA, calling for more comprehensive genomic research.
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