FOR IMMEDIATE RELEASE
Contact: Ilana Nikravesh
Mount Sinai Press Office
212-241-9200
[email protected]
Age Amplifies Genetic Risk of a Blinding Eye Disease
Mount Sinai study may help early detection and treatment for glaucoma
Newswise — Journal: Investigative Ophthalmology & Visual Science (IOVS) - published February 2025
Title: Does Age Modify the Relation Between Genetic Predisposition to Glaucoma and Various Glaucoma Traits in the UK Biobank?
Author: Louis R. Pasquale, MD, FARVO, Deputy Chair for Ophthalmology Research at the Icahn School of Medicine at Mount Sinai and Director of the NYEE Eye and Vision Research Institute
Hetince Zhao, Volunteer Researcher in the Department of Ophthalmology Icahn School of Medicine at Mount Sinai
Bottom line: As people get older, their genes play a bigger role in determining their risk for glaucoma and elevated eye pressures.
Why is this important? Glaucoma often develops silently, and can lead to irreversible vision loss. Many patients don’t know they have it until it’s advanced. By understanding how genetics and age interact, doctors can more effectively identify those at highest risk earlier on, and offer more timely monitoring and treatment to prevent vision loss.
Why study is unique? This is one of the first-large scale studies to specifically examine how age changes the influence of genes on glaucoma risk.
How the research was conducted? Researchers analyzed data from the UK Biobank, a large health study with information on about 500,000 people in the United Kingdom. Researchers looked at specific spots in each person's DNA called single-nucleotide polymorphisms (SNPs). These SNPs can act like markers that tell scientists something about a person's risk for certain diseases; there are thousands of SNPs that are highly related to glaucoma. For each study participant, researchers calculated a genetic risk score for glaucoma (multitrait glaucoma polygenic risk score) for each person based on their DNA. They divided participants into four age groups (under 51, 51-57, 58-62, and 63 and older). Then they looked at how the participants’ glaucoma genetic risk score related to their eye pressure, the structure of the retina, and whether they had glaucoma.
Researchers wanted to know if a higher genetic risk score was more strongly associated with higher eye pressure, thinner retinas, or a glaucoma diagnosis in older age groups compared to younger age groups. To ensure accurate results, researchers also accounted for other factors that could influence glaucoma risk, such as sex, ancestry, and lifestyle factors including smoking and alcohol consumption. This allowed them to isolate the specific effect of age on the relationship between genes and glaucoma.
Results: The study examined the relationship between age, genetic risk for glaucoma, and two key factors: intraocular pressure (IOP) and prevalence of primary open-angle glaucoma. Researchers analyzed IOP data from 118,153 participants. For glaucoma prevalence, researchers looked at a larger group of 192,283 participants, of whom 8,982 had glaucoma.
Findings showed that age significantly affects how a person's genetic risk score relates to their IOP and likelihood of having glaucoma. In essence, this study shows that as people age, having a higher genetic risk score becomes a stronger predictor of both elevated eye pressure and an increased chance of developing glaucoma.
When looking at IOP, the higher someone's genetic risk score, the higher their eye pressure tended to be, and this effect got stronger with age. In the youngest group (under 51), eye pressure increased by an average of .95 mmHG for every standard unit increase in the genetic risk score. This increase was 1.02 mmHg for people aged 51-57, 1.18 mmHg for those aged 58-62, and 1.24 mmHg for people 63 and older. This pattern suggests that as people age, their genetic predisposition has a stronger effect on their eye pressure.
Researchers also analyzed the risk of primary open-angle glaucoma and found a higher genetic risk score was associated with an increased likelihood of glaucoma, and this association became more pronounced with advancing age. In the youngest age group (under 51), people had 2.38 times higher odds of having glaucoma for every standard unit increase in their genetic risk score. This increased to 2.57 times higher for people aged 51-57, 2.80 times higher for those in the 58-62 age group, and 2.75 times higher for those 63 and older. This suggests that the connection between genetic risk and glaucoma was most pronounced in the 58-62 age group, although the 63 and older group was only slightly lower than the 58-62 age group. Overall, these numbers suggest that genetic predisposition plays a bigger role in glaucoma risk as people age, although the effect might plateau in the oldest age group.
What does this study mean for patients? This study suggests that genetic testing for glaucoma risk may be most informative for older patients. It also highlights the importance of regular eye exams as people age, especially if there's a family history of glaucoma.
Quotes: “This research underscores that glaucoma risk is not solely determined by genes or age alone, but by an intricate interplay between the two. Understanding this interaction is crucial for developing more effective, personalized screening strategies,” says Hetince Zhao, volunteer researcher in the Department of Ophthalmology Icahn School of Medicine at Mount Sinai.
“By highlighting the increased predictive power of the glaucoma genetic risk scores in older populations, we set a precedent for age-adaptive screening and management strategies. This has the potential to drive research towards more personalized medicine approaches, tailoring prevention and treatment plans based on genetic risk profiles refined by patient age,” adds Louis R. Pasquale, MD, FARVO, Deputy Chair for Ophthalmology Research at the Icahn School of Medicine at Mount Sinai and Director of the NYEE Eye and Vision Research Institute.
Study collaborators and funding: This study was a collaboration between researchers at multiple institutions including New York Eye and Ear Infirmary of Mount Sinai, the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, Harvard T.H. Chan School of Public Health, NIHR Biomedical Research Centre at Moorfields Eye Hospital & UCL Institute of Ophthalmology, and Institut Pasteur (Universite虂 de Paris).
This work was supported by grants from the National Eye Institute (NEI), the National Institute of General Medical Sciences, Research to Prevent Blindness, the Glaucoma Foundation, a UK Research and Innovation Future Leaders Fellowship, an Alcon Research Institute Young Investigator Award, and Lister Institute for Preventive Medicine Award.
About the Mount Sinai Health System
Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with 48,000 employees working across eight hospitals, more than 400 outpatient practices, more than 600 research and clinical labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time—discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.
Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 9,000 primary and specialty care physicians and 11 free-standing joint-venture centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida. Hospitals within the System are consistently ranked by Newsweek’s® “The World’s Best Smart Hospitals, Best in State Hospitals, World Best Hospitals and Best Specialty Hospitals” and by U.S. News & World Report's® “Best Hospitals” and “Best Children’s Hospitals.” The Mount Sinai Hospital is on the U.S. News & World Report® “Best Hospitals” Honor Roll for 2024-2025.
For more information, visit or find Mount Sinai on , and .
RSS