AREDS and Genetics
Questions and Answers about AREDS and Genetics
How was the AREDS formulation developed?
The Age-Related Eye Disease Study (AREDS), which was funded by the National Institutes of Health’s National Eye Institute, established that daily long-term doses of vitamins C and E, beta-carotene, along with the minerals zinc and copper—called the AREDS formulation—can help slow AMD progression to wet AMD. A second study called AREDS 2, published in 2013 resulted in some minor modifications to the original formulation.
These two studies form the basis on which clinicians make recommendations for their patients with dry macular degeneration. The American Academy of Ophthalmology now recommends using the AREDS or AREDS2 formulation to delay or prevent the progression of AMD as the standard of care.
At the time the AREDS study was conducted, the genetic basis of AMD was unknown and investigators were unable to study the role of individual genetic variation on response.
Are the genetics of macular degeneration important?
Macular degeneration is influenced by a complex interaction of genes and environmental factors. Variations in more than fifty genes influence the incidence and progression risk for AMD, but two are most prominent: Complement Factor H (CFH) and the Age-Related Maculopathy Susceptibility 2 (ARMS2) genes. Inherited genetic variation, along with personal and environmental factors such as age, sex, smoking, diet, and body mass index (BMI) combine to influence AMD risk.
Everyone has two copies of every gene–one from each parent. Genes may be in their original form as present in early humans, or as newer variants. Some of these variations are linked to specific human diseases.
At each of the AMD-associated genes (CFH and ARMS2) a person could have zero, one, or two copies of the AMD-associated variants. Genes account for over half the risk of developing AMD so, understanding which variants are present in a patient’s genes can help.
A certain combination of variations in the two main AMD genes (CFH and ARMS2) affects how an individual with dry AMD responds to zinc, a supplement that doctors sometimes suggest to prevent progression to wet AMD. The Vita Risk test determines the variations an individual may have in these specific genes and if zinc may actually be harmful.
What is personalized medicine as it relates to drug and supplement use?
Pharmacogenetics is the use of genetics to guide patient drug use and is part of personalized medicine or precision medicine. It holds the promise of customized therapies based on the unique characteristics of individual patients. In cancer treatment, for example, pharmacogenetics is increasingly important in choosing the best chemotherapy option for each person.
As in other fields, pharmacogenetics also guides the management of age-related macular degeneration. We have more to learn regarding various new treatments and genetics, but based on rigorous peer-reviewed scientific reports, a patient’s genetic profile influences their response to treatment with nutritional eye supplements such as the AREDS/AREDS2 formulations.
Related Research:
CFH and ARMS2 genetic risk determines progression to neovascular age-related macular degeneration after antioxidant and zinc supplementation. Read More.
Response to AREDS supplements according to genetic factors. Read More.
Treatment response based on antioxidants and zinc on CFH and ARMS2 risk allele number in the Age-Related Eye Disease Study. Read More.