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A number of genes appear to have an impact on the development of Age-related Macular Degeneration.

The deCODEme Genetic Scan analyzes your DNA and provides you with a personalized interpretation of your genetic risk for developing AMD.

Because the causes of AMD cannot be treated, prevention and early diagnosis are especially important – Knowing your genetic risk for AMD can empower your preventive efforts

AMD is the most common cause of poor sight in people over 50

Age-related macular degeneration or AMD is a major cause of visual impairment in the United States, with approximately 1.8 million Americans over the age of 50 affected by the disease, and another 7.3 million people with intermediate AMD who are at substantial risk of vision loss. It has been estimated that by 2020 there will be 2.9 million people with advanced AMD in the US.

Mainly the central vision is affected in AMD

As part of the aging process deposits, called drusen, form in the retina of the eye. AMD leads to the deterioration of the retina that is partly due to the excessive accumulation of drusen. The retina is the part of the eye that relays images via the optic nerve to the brain. The centre of the retina is called the macula and is responsible for the detailed central vision that allows people to read, drive, and recognize faces. If the macula starts to break down, areas in the center of the visual field start to look blurred.

The two main types are ‘wet’ and ‘dry’ AMD

AMD can be split into three grades of severity, based on the number and size of the drusen and the appearance of the retina: early, intermediate and advanced, which can be further split into two forms, called wet and dry AMD. Dry AMD is more common than wet AMD, but the latter is responsible for over 80% of cases of severe loss of vision and legal blindness related to AMD. Advanced AMD is primarily a condition affecting individuals after the age of 60.

Genetics contribute significantly to AMD

Genetic factors have been shown to contribute significantly to the development of AMD; for example having first degree relatives with AMD increases the lifetime risk 2-3 fold.

Variants in five regions of the genome have been identified that increase the risk of developing AMD: a variant in the CFH gene on chromosome 1, a variant in the ARMS2/HTRA1 genes on chromosome 10, two variants in the C2/CFB genes on chromosome 6 and one variant in the C3 gene on chromosome 19. CFH, C2, CFB and C3 are involved in the immune response and controlling inflammation in the body. Individuals with certain variants in these genes may be at higher risk for inflammation-induced damage to the retina.

deCODEme calculates your genetic risk for Age-related Macular Degeneration

The deCODEme Complete Scan identifies the genetic variants listed above and uses them to provide customers of European descent with a personalized interpretation of their genetic risk for developing Age-related Macular Degeneration. For customers of East Asian ancestry, risk data is only available for the variant in the ARMS2 gene on chromosome 10.

At present, the necessary scientific information to interpret the genetic risk for customers of other ethnicities is not available. This information will be added as soon as it becomes available and we are assured of its quality.

Smoking is one of the main risk factors for AMD

Although it is not clear what causes AMD, a number of factors that may put a person at greater risk for developing AMD have been identified:

• Age: AMD rarely affects those under age 50 and studies show that people over age 60 are at greater risk than other age groups.
• Gender: White females appear to have higher risk than males.
• Smoking: Studies have found that current and former smokers have up to twice the risk of developing AMD as non-smokers.
• Obesity: Studies have suggested a link between obesity and the progression of early- and intermediate-stage AMD to advanced AMD.
• Genetics: The increased risk of AMD related to family history demonstrates that genetics play a significant role in development of the disease. Individuals with a single relative with AMD are twice as likely to develop the disease, while those with two or more relatives are nearly four times as likely to be diagnosed. The risk is even higher if the affected family members were diagnosed before the age of 65.

Early diagnosis and prevention are important

Although there is no known cure for either form of AMD, therapies are available that can slow the progression of the disease. Early diagnosis is also an important part of controlling disease progression. People at risk for AMD, including those over the age of 50 and those with a family history of AMD, should have their eyes examined regularly, learn to recognize the signs of AMD, and take steps to reduce their risk for developing AMD.

More information

You can find out more information about age-related macular degeneration by talking with your doctor and visiting these Web sites:

• The Foundation of the American Academy of Ophthalmology
• Foundation Fighting Blindness
• Help for Age-Related Macular Degeneration
• JAMA patient page
• Macular Degeneration International
• MedlinePlus-Trusted Health Information for You
• National Eye Institute
• Prevent Blindness America

Scientific references

1. Maller J, George S, Purcell S, et al (2006). Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.Nature Genetics Sep;38(9):1055-9. Epub 2006 Aug 27.

This content was last reviewed on February 08, 2010.

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