Studies Reveal Genes Associated with Age-Related Macular Degeneration

Age-Related Macular Degeneration (AMD) is the leading cause of vision loss in older Americans, according to the National Eye Institute. In an effort to better understand what causes AMD, scientists have uncovered three genes that may play a part in triggering it.

The study was led by Anand Swaroop, Ph.D and Goncalo Abecasis, D.Phil. It involved more than 18,000 participants, and was designed to help find a way to predict an individual's risk of developing AMD. The same findings will hopefully lead to new treatments for macular degeneration as well. The study was done using a genome-wide association method, which compares the entire DNA of one person with another, in order to detect small variations.

The strongest indicator of AMD found was on an area of chromosome 22, near a gene referred to as TIMP3. Mutations in TIMP3 have been known to cause other eye disorders, including an early-onset form of macular degeneration. Two other genes that are associated with the High Density Lipoprotein (HDL, also known as good cholesterol) pathway were also linked to AMD. Scientists believe that an accumulation of cholesterol byproducts in the back of the eye may be partially responsible for macular degeneration. However, further study is needed to verify these findings.

The study's leaders noted that genetic variations in the cholesterol pathway affect the eye differently than the circulatory system, so the amount of cholesterol in the blood cannot be used as an indicator for AMD. However, Dr. Swaroop was confident that the study was a success, stating, "We have uncovered a major biochemical pathway that may be a target for future AMD treatments."The results, while still inconclusive, are important, as Age-Related Macular Degeneration is the leading cause of blindness and vision loss in Americans 60 and older.
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