Exploring the role of CYP19A1 single nucleotide polymorphisms in the pathogenesis of female pattern hair loss

Female Pattern Hair Loss (FPHL) is a common dermatological condition in women, often causing significant psychological distress. The role of genetic factors, particularly single nucleotide polymorphisms (SNPs) in the cytochrome P450 (CYP19A1) gene, has been a subject of interest but has not been extensively studied in Egyptian populations. Hence, this study aimed to investigate the association between specific SNPs in the CYP19A1 gene (rs184895853 and rs116904472) and FPHL in an Egyptian population. This case-control study was conducted on 180 unrelated women (120 patients with FPHL and 60 healthy controls). Clinical examinations, hormonal assays, and genotyping of the CYP19A1 gene were performed. Real-time polymerase chain reaction was used for gene expression analysis, and the TaqMan SNP Genotyping assay was used for identifying SNP variants. There was a significant difference in the frequency of the C allele in both rs184895853 (72.5% in patients vs. 30% in controls) and rs116904472 (70% in patients vs. 30% in controls). Patients with the TT genotypes (rs184895853 and rs116904472) showed reduced CYP19A1 gene expression compared with those with CT and CC genotypes. The patients’ group showed higher incidences of acne and hirsutism, along with elevated levels of dehydroepiandrosterone sulfate (DHEAS), testosterone, and androstenedione. The SNPs rs184895853 and rs116904472 in the CYP19A1 gene are associated with FPHL in the Egyptian population, showing their potential role in the upregulation of CYP19A1 gene expression in FPHL.