Researchers may have uncovered genetic factors linked to the development of generalized pustular psoriasis, according to a recent study published by Yoshikawa et al in the Journal of the American Academy of Dermatology. Although previous studies have found six gene variants that may be associated with a higher risk of generalized pustular psoriasis, some patients with the disease do not present with these variants. In a recent study, researchers performed next-generation sequencing in 24 patients with generalized pustular psoriasis as well as controls between December 2015 and November 2021. They discovered that higher minor allele frequencies of two MEFV gene variants (heterozygous p.Arg202Gln and heterozygous p.Ser503Cys) were present in a respective 21% (n = 5) and 13% (n = 3) of the patients with generalized pustular psoriasis. The minor allele frequencies of p.Arg202Gln and p.Ser503Cys were significantly higher in the patients with generalized pustular psoriasis compared with those in the controls. Certain variants of pyrin—an inflammatory pathway regulator and product of the MEFV gene—may induce neutrophil chemotaxis and elevated inflammation. They underscored that therapies targeting the MEFV gene–related inflammatory pathway—such as repurposed agents used to treat familial Mediterranean fever—may also be effective in patients with generalized pustular psoriasis with these variants.
March 20, 2024