Genotyping Of The Rs1800440 Polymorphism In CYP1B1 Gene And The Rs9258883 Polymorphism In HLA-B Gene In A Spanish Cohort Of 223 Patients With Frontal Fibrosing Alopecia

The study investigated the genetic basis of frontal fibrosing alopecia (FFA), a type of hair loss primarily affecting women, through genome-wide association studies involving 844 cases and 3,760 controls from the UK, and 172 cases and 385 controls from Spain. The research identified four genomic loci associated with FFA: 2p22.2, 6p21.1, 8q24.22, and 15q2.1. Notably, the HLA-B*07:02 allele at the 6p21.1 locus was implicated as a significant factor. Additionally, a potential causal variant in the CYP1B1 gene at 2p22.1 was identified. Transcriptomic analysis of affected scalp tissue revealed an overrepresentation of immune response pathways, suggesting that FFA is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07:02 allele.