A recent study from Singapore and the United States showed new evidence of a strong underlying link between degeneration of the eye and brain.
It found that genetic variation at a beta-amyloid gene was strongly linked to increased risk of Primary Open Angle Glaucoma (POAG).
POAG is the most common form of glaucoma and the leading cause of irreversible blindness worldwide.
The link was identified specifically in people with African ancestry.
The high-risk variant was common in African populations (around 20%) but essentially absent in all other ancestral groups.
The findings confirmed a common suspicion that glaucoma may not simply be an eye disease, but also linked to degeneration of the brain.
The study is published in the Journal of the American Medical Association (JAMA).
According to the researchers, two lines of evidence were established—First, genetic variation at a beta-amyloid gene family was observed to be significantly associated with POAG risk.
Second, beta-amyloid deposits were also strongly increased in the eye and brain tissues of patients with POAG compared to unaffected individuals.
This links degeneration of the eye to possible degeneration of the brain as beta-amyloid is one of the best-known causes for nerve cell death in Alzheimer’s disease and dementia.
The findings are crucial in efforts to pinpoint why certain groups of people suffer from severe glaucoma, particularly early on in life.
The team also found that African populations have been understudied and underrepresented in genomic research.
This is despite the fact that modern humans originated in Africa approximately 200,000 years ago, and 99% of the human evolutionary experience has been in Africa.
The team says African populations hold a treasure trove of unexplored genomic information that could provide solutions to combat various diseases, including glaucoma.
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