AMD and Genetic Predisposition

Increasing evidence suggests that age-related macular degeneration (AMD) has a genetic link, and a new prospective study (Arch Ophthalmol. 2007;125:55-62) has now identified potentially modifiable risk factors for this disease. In an effort to determine to what degree susceptibility to AMD is due to common variants in the gene for complement factor H (CFH) and the predicted gene LOC387715, and to establish whether these variants are affected by risk factors (ie, smoking and obesity), patients with AMD (n = 457) were compared with age- and sex-matched controls (n = 1071) from the Nurses’ Health Study and the Health Professionals Follow-up Study. Patients who carried the susceptibility alleles for either CFH or LOC387715 were found to have a 3- to 8-fold increased risk for AMD. A 50-fold increase in risk was reported in patients who had 2 copies of the susceptibility alleles in both genes. Although both smoking and obesity multiplied the risks associated with these variants, these results were not significant.