New Research Identifies 44 Genetic Loci for Glaucoma

Past research has shown up to 83 genes and genetic loci associated with glaucoma. However, reports the Massachusetts Eye and Ear Infirmary in a news release, new research has identified 44 additional loci linked to glaucoma. Currently, there are a few therapeutic options (but no cure) for patients with glaucoma, including medicated eye drops and surgery. Through identifying these new genetic loci, researchers hope to find additional treatments or therapeutic targets. Check out the full findings of this meta-analysis published in Nature Communications.

Genetic Loci Research

Prior research tended to focus on glaucoma in those with European ancestry. However, this leaves out an important consideration: that glaucoma tends to impact those with African and Asian ancestry at a higher rate. So it is important to have a more broad and comprehensive understanding of all patient experiences. In this meta-analysis, which is considered the largest genome-wide study for glaucoma, researchers compared the genes from 34,179 patients with glaucoma to 349,321 controls. This study used patients of all backgrounds and ancestry types.

In the study, they found 83 confirmed genetic loci and 44 new genetic loci linked to glaucoma. According to the National Human Genome Research Institute, genetic loci are:

the specific physical [locations] of a gene or other DNA sequence on a chromosome, like a genetic street address.

Through this study, researchers also discovered that:

  • Genetic loci associated with glaucoma were present across those of European, Asian, and African ancestry.
  • Recognizing which genetic loci are linked to glaucoma can allow for early diagnosis, monitoring, and treatment options.
  • This new research can help scientists create a more specific and accurate polygenic risk score to determine how much of a risk someone has of developing glaucoma.


There are multiple forms of glaucoma, which is used as an umbrella term for conditions characterized by progressive optic nerve damage. In many cases, this nerve damage is associated with a pressure buildup in the eye. Normally, fluid in the eye flows through a mesh-like channel. But when this gets blocked, it affects the circulation and causes pressure. Some hypothesize that inflammatory conditions or ocular injuries may cause glaucoma. However, studies have also linked genetic mutations to glaucoma development. Over 75 million people globally have glaucoma. Some forms, like primary open-angle glaucoma, are not rare. Rare forms of glaucoma include:

  • Neovascular, which is caused by abnormal blood vessels.
  • Congenital, which is diagnosed in early childhood.
  • Pseudoexfoliation syndrome, characterized by flaky material peeling off of the eye’s outer layer.

In many cases, glaucoma is often painless at first. However, without treatment, glaucoma may lead to vision loss. If and when symptoms do appear, these include:

  • Eye pain and pressure
  • Nausea and vomiting
  • Blurry vision
  • Severe headache
  • Seeing halos around lights
  • Eye redness

Learn more about glaucoma.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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