Age-Related Macular Degeneration (Fritsche, 2015)

eye close up

STUDY TITLE: A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

SUMMARY: Discovery of 16 novel risk loci for age-related macular degeneration.

OVERVIEW:  The retina, located at the back of the eye, contains cells that detect light and generate signals that are sent to the brain enabling us to visualize the world around us. The center part of the retina is known as the macula. It allows us to see in high-resolution and perceive colors. Degeneration of the macula is one of the leading causes of vision loss among the elderly, affecting nearly 160 million individuals worldwide. This genome-wide association study attempted to identify genetic variants that correlate with a person’s risk of developing this age-related macular degeneration by examining the genomes of over 40,000 individuals of European ancestry. The study found 34 genetic loci, 16 of which are novel, that are associated with age-related macular degeneration. Some of the implicated genes play a role in the formation of extracellular matrix, that embeds the eyes and other organs. Other implicated genes are known to be involved in inflammation control.

DID YOU KNOW? Smoker’s have a significantly increased risk of developing macular degeneration. When the chemicals from cigarette smoke get in the eyes, they irritate the retina and can cause lasting damage over time. [SOURCE]

SAMPLE RESULTS: Learn more about the Nebula Research Library.

VARIANTS ASSOCIATED WITH MACULAR DEGENERATION: rs3750846, rs10922109, rs116503776, rs2230199, rs429358, rs5754227, rs5817082, rs10033900, rs201459901, rs2043085, rs943080, rs62358361, rs62247658, rs72802342, rs140647181, rs6565597, rs79037040, rs8135665, rs61985136, rs142450006, rs9564692, rs1626340, rs61941274, rs1142, rs10781182, rs3138141, rs7803454, rs11080055, rs2740488, rs114092250, rs67538026, rs11884770, rs71507014, rs12357257

Vision (Video)
Age-related Macular Degeneration

WEEKLY UPDATE: November 16, 2019