Complement Factor Polymorphism Linked To Age-related Macular Degeneration

NEW YORK (Reuters Health) - A polymorphism in the complement factor H gene (CFH) appears to increase the risk of age-related macular degeneration (AMD), according to the findings of three studies published in the March 10th online issue of Science.

Dr. Josephine Hoh, from Yale University School of Medicine in New Haven, Connecticut, and colleagues conducted a genome-wide screen of 96 AMD cases and 50 controls to look for associated polymorphisms.

The authors identified a common variant in the CFH gene that was strongly tied to AMD. Homozygosity for variant alleles raised the risk of AMD by 7.4-fold. Further testing revealed a polymorphism in a section of CFH that binds C-reactive protein and heparin.

In a second study, Dr. Albert O. Edwards, from the University of Texas Southwestern Medical Center in Dallas, and colleagues identified the same polymorphism, which occurs at amino acid 402 and involves a tyrosine-histidine change.

Having at least one histidine at this position raised the risk of AMD by 2.7-fold. The authors estimate that this polymorphism accounts for 50% of the attributable risk of AMD.

Lastly, Dr. Margaret A. Pericak-Vance, from Duke University Medical Center, Durham, North Carolina, and colleagues also linked the same CFH variant with AMD. In their study, the odds ratios ranged from 2.45 to 5.57 with attributable risk of about 43%.

“Given the rapid aging of the population, an estimated 3 million individuals will have atrophic and exudative complications of AMD by 2020. Our findings suggest new avenues for developing preventative and therapeutic strategies for AMD,” Dr. Edwards’ team concludes.

Source: Science 2005. [ Google search on this article ]

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