November 11, 2019
1 min read

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.