CYP1B1 mutations in primary glaucoma: review and analysis of genetic studies in various populations

Glaucoma is an ophthalmological disease, causing neurodegeneration of the optic nerve. Globally, the population with glaucoma is estimated at 66 million. Primary glaucoma has higher prevalence than secondary glaucoma, while the causes of primary glaucoma often remain unknown. CYP1B1 has been reported to have an influence on primary glaucoma. In this study, we selected the 39 most relevant mutations from the UniProt protein database and studied literature available in the database. We analyzed the data from UniProt in terms of mutation frequencies in cited literature, number of mutations associated with various types of glaucoma or glaucoma-reminiscent symptoms, and repeatability of various amino acids, both replaced and introduced by the mutations, as well as non-substitutive effects, such as deletion (del) or nonsense mutations resulting in stop codons (*). We found that most mutations were associated with primary congenital glaucoma (PCG) and primary open-angle glaucoma (POAG), 23 and 14, respectively, with only 2 mutations associated with glaucoma symptoms or glaucoma-reminiscent symptoms. The most commonly replaced amino acid was arginine (R) with 7 substitutions, followed by valine (V) with 6 substitutions, alanine, and serine. The frequency of occurrence in analyzed papers was from 0.42% to 28.13%, with only two papers with frequency below 1%, ten papers with frequency ≥ 1–10%, four papers with ≥ 10–20%, and four papers above 20%. CYP1B1 needs to be further studied in order to facilitate early diagnosis and treatment of primary glaucoma.