Variant PADI3 in Central Centrifugal Cicatricial Alopecia

The study from February 28, 2019, found that mutations in the PADI3 gene are associated with Central Centrifugal Cicatricial Alopecia (CCCA), a form of scarring alopecia prevalent among women of African ancestry. The research included a total of 58 patients, with 16 in the discovery set and 42 in the replication set. In the discovery set, 5 out of 16 patients (31%) had PADI3 mutations, while in the replication set, 9 out of 42 patients had genetic variants in PADI3. The mutations were linked to decreased PADI3 expression, protein misfolding, abnormal intracellular localization, and reduced enzymatic activity, which are essential for proper hair-shaft formation. The study concluded that the prevalence of PADI3 mutation was significantly higher in patients with CCCA compared to a control group, suggesting that these damaging genetic variants contribute to the higher prevalence of CCCA in women of African ancestry.