August 26, 2005
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Gene tied to increased AMD risk identified

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A gene mutation that may increase an individual’s risk of developing age-related macular degeneration fivefold has been identified by researchers at the University of Pittsburgh.

Michael Gorin, MD, and colleagues noted that associations between this newly identified gene mutation and the onset of AMD were independent of association with complement factor H, another mutation previously linked to AMD.

Based on a 15-year study involving gene-mapping of 612 families affected with AMD and 323 unaffected individuals, the researchers discovered that an area of chromosome 10 was strongly associated with the disease, according to a news report in the Pittsburgh Post-Gazette. The study by Dr. Gorin and colleagues also confirmed earlier research showing that the complement factor H gene variant plays a major role in the disease development.

Since both genes are involved in cellular processes that affect inflammation, it might be possible to use steroids or other anti-inflammatory agents to treat AMD in the early stages, the researchers noted.

The study is published in the online edition of the American Journal of Human Genetics and will be published in the September print issue.