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Gene discovery provides clues to cause of age-related macular degeneration.

ATRIO OF STUDIES HAS IDENTIfied a gene variant that may be responsible for about half of the 15 million age-related macular degeneration (AMD) cases in the United States. The finding also suggests that inflammation plays an important role in the etiology of the disease. The three multi-institution studies were published in an advance online edition of Science on March 10 (http: //www.sciencexpress.org). The research, which used techniques derived from the Human Genome Project, identified a common variant of the complement factor H (CFH) gene that explains about 50% of AMD cases. The CFH gene is involved in regulating the alternate complement pathway. Activation of the pathway destroys bacteria, regulates immune reactions, and produces inflammation. Complement factor H inactivates components of the pathway (de Córdoba et al. Mol Immunol. 2004;41: 355-367). Albert O. Edwards, MD, PhD, president of the Institute for Retina Research Laboratory at Presbyterian Hospital of Dallas, said it is remarkable to find a gene that appears to be responsible for so many cases of a complex disease. “It’s the ultimate confirmation of the ‘common disease–common gene’ hypothesis,” said Edwards, previously an assistant professor at the McDermott Center for Human Growth and Development at the University of Texas Southwestern Medical Center in Dallas. Age-related macular degeneration, the most common cause of blindness in individuals older than 60 years, is a progressive disease that destroys the center of the retina, or macula. Environmental factors, including smoking, obesity, and fat intake, contribute to disease progression. Over time, individuals with the disease may lose their central field of vision, which makes such tasks as reading or driving difficult or impossible.