The identification of genes responsible for this disease is the first step toward the development of gene-based disease detection and treatment.
POAG is often associated with increased eye pressure but about one-third of patients have normal pressure glaucoma (NPG). Currently, no curative treatments exist for POAG or NPG.
Researchers in the United States analysed DNA sequences of 6,633 participants, half of whom had POAG. The results found that two variations were associated with POAG, including NPG. These are the first variants commonly associated with NPG. One variant is in a gene located on chromosome nine called CDKN2BAS whereas the other variant is in a region of chromosome eight where it may affect the expression of genes LRP12 or ZFPM2. These genes may interact with transforming growth factor beta (TGF-beta), a molecule that regulates cell growth and survival throughout the body. Previous studies have also implicated TGF-beta in glaucoma.
This study has provided important new insights into the disease pathogenesis and will make possible future studies focused on translating this information into the clinic.
