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Genetic variation for primary open-angle glaucoma found in those with African ancestry
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Primary open-angle glaucoma may be associated with a genetic variation in individuals with African ancestry, a study found.
The multicenter genome-wide association study included 26,295 subjects, of which 9,257 had primary open-angle glaucoma (POAG). A meta-analysis identified an association between glaucoma and variants at amyloid beta A4 precursor protein-binding family member B 2 (APBB2; chromosome 4, rs59892895T>C).
The rs59892895*C risk allele, which was found only in individuals with African ancestry, continued to show association with POAG risk.
“The increased risk associated with the APBB2 allele appeared not to be mediated via increased IOP or optic nerve neuropathy associated with an increasing vertical cup-to-disc ratio, thus suggesting a new insight to primary open-angle glaucoma disease pathogenesis,” the study authors wrote.
In addition, an analysis of human retinal and primary visual cortex tissue suggested there may be a relationship between the APBB2 rs59892895*C risk allele, increased APBB2 expression and increased beta-amyloid plaque deposition, suggesting POAG neurotoxicity could result from incomplete clearance of neurotoxins and amyloid beta from the optic nerve’s interstitial space.
“It is possible that these differences in genetic architecture are, at least in part, responsible for the increased prevalence and severity of primary open-angle glaucoma in African ancestry populations,” the authors wrote. – by Rebecca L. Forand
Disclosures: Hauser reports no relevant financial disclosures. Please see the study for all other authors’ relevant financial disclosures.
Perspective
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Savak “Sev” Teymoorian, MD, MBA
The philosophical revolution in glaucoma that has changed our treatment paradigm from a reactive to proactive methodology continues to expand. But just like everything else that has come in this rapidly changing landscape, we are viewing smaller as being better. In this case, we can’t get any smaller than single-nucleotide polymorphisms at a particular locus (APBB2). Why is this study important? Well, this means why wait for there to be any nerve damage before we identify and respond accordingly to provide excellent care. The ability to stratify patients into higher risk and aggressively treat them prior to structural changes exemplifies our attempts to be more proactive. This is especially valuable when we consider patients of African ancestry whom we know are at greater risk for not only getting glaucoma but also in degree of severity. The sooner we act on these patients, the less irreversible damage will occur. At the end of all of this, it is about our ability to maintain the best quality-of-life for our patients. The ideal approach is to treat before there are changes, and this study provides a tool we need in our battle against glaucoma to achieve that end.
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