Johanna M. Seddon, MD, ScM
Our twin study of age-related macular degeneration (AMD) demonstrated that genes play a substantial role in AMD, and that environmental factors also contribute. Since then several genes have been identified, most of which are in the inflammatory pathway. In a very large study of about 1000 cases and 1700 controls followed by replication in over 10,000 samples, we recently identified a new gene called hepatic lipase C or LIPC, in the HDL pathway. Associations between genes and modifiable factors like diet and supplements, smoking, and body weight have shown that these factors can alter genetic susceptibility, and together they can predict AMD. Recommendations for patients with AMD and family members will be discussed.
REFERENCES:
Seddon J, George S, Rosner B, Klein M. CFH gene variant Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered 2006;61:157-165.
Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B.
Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci 2009;50:2044-2053.
Neale BM, Fagerness J, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).PNAS 2010; 107: 7395-7400.
