Friday, August 10, 2007
This week in the New England Journal of Medicine we have a study from Cambridge. This is a new player in the established Age Related Macular Degeneration risk polymoprhisms.
Age-related macular degeneration(ARMD) is the leading cause of visual impairment in the elderly and the most common cause of blindness in Western countries. It affects the macular region of the retina. The macula has a high density of photoreceptors and provides detailed central vision.
In the early stages of the disease (referred to as age-related maculopathy), deposits develop. Later, the disease is manifested as either extensive atrophy of the retinal machinery. These conditions can lead to a loss of central vision.
The pathogenesis of age-related macular degeneration is poorly understood. As with other late-onset chronic diseases, susceptibility is influenced by age, ethnic background, and a combination of environmental and genetic factors. Smoking status and family history are well-established determinants of risk.
According to the study which evaluated SNPs from the C3 and C5 genes there was a significant association between C3 polymorphism S/F (Arg80Gly) and ARMD in addition the homozygote carrying 2 FF types actually had an Odds Ratio of 2.6 combined for both Scots and English. For the Scots the risk is higher at 2.9 This is where we really see some risk. If this would be published in the media, they would say "New Gene Increases risk by 290%"
The Sherpa Says: Now this study has some teeth. Personally I feel that if we use a Richter Scale to judge studies and findings my Gestalt would be 4 on the PGP Richter Scale!!! Now we need some prevention studies with these linkages. Any Takers? Lastly, I received a message from Salugen. I vow that I will post the data they have. But I also will review the data prior to posting.