Healio
Healio
September 23, 2005
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Gene linked to AMD risk draws much attention

Hageman
Gregory S. Hageman, PhD, examined more than 3,200 pairs of donor eyes to make a connection between complement factor H and AMD.
WASHINGTON — Variants in the complement factor H gene have a strong association with a person’s risk for age-related macular degeneration, said Gregory S. Hageman, PhD, and the establishment of this fact should help to clarify the immune system’s relation to the disease. Dr. Hageman is working with one of four teams studying the complement factor H (CFH) gene’s relationship with the body’s inflammatory response, he said here during a luncheon briefing sponsored by the National Alliance for Eye and Vision Research.

Proteins in the CFH pathway have been found in the drusen deposits in eyes with dry AMD, Dr. Hageman said. Examining 3,200 pairs of donor eyes from people with dry AMD, Dr. Hageman’s group discerned a genetic component in at least 75% of the specimens, he said.

Research into the genetic basis of the disease is of utmost importance, Dr. Hageman said, because of recent discoveries. For instance, he said, there is typically one variant found in genes that causes a particular mutation. For the CFH gene, however, there are 12.

“This is breaking all the rules,” Dr. Hageman stated. “The facts are staggering.”

The CFH gene variant accounts for 30% to 50% of the overall risk for developing AMD, Dr. Hageman said. Patients will have a two- to fourfold increased risk of developing the disease if they inherited the gene variant from one parent and a five- to sevenfold increased risk of developing the disease if they inherited the variant from both parents.

Dr. Hageman noted that protective forms of the CFH gene have been identified that may help researchers develop diagnostics and treatments. He said with continued funding, therapeutic strategies can be evaluated, including gene therapy modulation. Even diagnostic platforms for early detection are now possible, he said.

“In my way of thinking, this will be a wonderful place to start when we begin to develop therapies,” he said.