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Gene Associated with Higher Macular Degeneration Risk

Carriers of CFH Y402H polymorphism have a higher risk of vision-threatening eye condition

TUESDAY, July 18 (HealthDay News) -- Homozygous carriers of a polymorphism in the complement factor H (CFH) gene are at higher risk of age-related macular degeneration than heterozygotes or non-carriers, according to a report in the July 19 issue of the Journal of the American Medical Association.

Dominiek D.G. Despriet, M.D., of the Erasmus Medical Center in Rotterdam, the Netherlands, and colleagues studied the effects of smoking, the CFH gene polymorphism CFH Y402H and age-related macular degeneration in 5,681 people 55 or older in Rotterdam, the Netherlands.

The researchers found that 36.2 percent had the CFH Y402H polymorphism and 36.3 percent had age-related macular degeneration. Homozygous patients had a cumulative 48.3 percent risk of late disease by age 95, versus 42.6 percent for heterozygotes, and 21.9 percent for non-carriers, the report indicates. Homozygotes who smoked, had elevated C-reactive protein and elevated erythrocyte sedimentation rates had a risk 34-fold, 28-fold and 20-fold higher, respectively, than non-carriers.

"The CFH Y402H polymorphism may account for a substantial proportion of age-related macular degeneration in individuals similar to those in the Rotterdam study and may confer particular risk in the presence of environmental and genetic stimulators of the complement cascade," the authors write.

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