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Age Related Macular Degeneration - Genetics link could increase Risk

March 6th, 2006

Age Related Macular Degeneration - Genetics link could increase Risk


A study conducted at the Columbia University Medical Center found two genes, Factor H and Factor B, may increase the occurrence of age-related macular degeneration (AMD) in 74% of these patients.  There is an estimated 10 million individuals in the United States that have AMD.

The study was first published in Nature Genetics and found that three out of four AMD patients had either one or both of these genes.  This study found that the Factor H gene showed a considerably higher risk for developing AMD.  People that have a variation of the Factor H are not able to control inflammation.  Factor H gene when working properly works by telling a protein to stop an immune response when the infection is gone.


The researchers realize that even though Factor H increases the AMD risk, there is not a clear reason why some people that have the variation donít develop AMD.  In their research, the scientists found that there were 29 percent of people that had the Factor H risk variant and were not diagnosed as having AMD.

The scientists wanted to look further into any other genes that worked in the same pathway of the immune system response because of the Factor H variant carriers that did not have AMD.  They analyzed 1,300 people for additional genetic information.  The researchers found Factor B was the major modifier for AMD.  Factor B is an activator for the immune system response.  The researchers believe that since Factor H is the opposite as Factor B, the genes can balance each other and prevent the disease from progressing in some people.


"I am not aware of any other complex disorder where nearly 75 percent of genetic causality has been identified," said Dr. Rando Allikmets, Ph.D., the Acquavella Associate Professor in Ophthalmology, Pathology and Cell Biology at Columbia University Medical Center, who is senior author of the paper.

"These findings are significant because they absolutely confirm the roles of these two genes and, consequently, the central role of a specific immune response pathway, in the development of AMD. We confirmed this association not just statistically and genetically but, most importantly, pinpointed the biological origin of the disease," stated Dr. Allikmets. "In just a few short years, we've gone from knowing very little about what causes AMD to knowing quite a lot. We now have clear targets for early therapeutic intervention."


The researchers may have new understandings of the genetic relationship, but further research needs to be understood in how to manage the immune system.  Once the researchers understand how to prevent inflammation they will be able to prevent damage to the eye from occurring.

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By Nicole Wilson
Best Syndication Staff Writer


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