A strength of the AMD Gene Consortium, Haines noted, is the participation of groups from all over the world. The consortium combined existing genome-wide association scans (GWAS) and performed additional genotyping studies. The researchers examined genetic data from more than 17,000 patients with advanced AMD and more than 60,000 people without AMD.
The loci they identified include genes involved in immune system signaling, lipid metabolism, remodeling of the matrix that surrounds cells and blood vessel development. The researchers are continuing to study the genetic regions, Haines said.
"This paper is a global population look at genetic loci, and now we're drilling down to the details and discovering rare variants in genes that may suggest how they participate in causing AMD," Haines said.
The hope, Haines said, is that a full understanding of genetic and environmental risk factors will allow the computation of an AMD risk score. Several companies already offer tests that generate risk scores, but they are based on older information.
"If we can identify the people who are at greatly increased risk for AMD, perhaps we can begin to do clinical trials to test treatments that may prevent the disease," Haines said.
Current treatments for AMD help stabilize the disease, but they do not reverse its course. New treatments based on the genetic findings are in development, Haines said.
|Contact: Leigh MacMillan|
Vanderbilt University Medical Center