Clinical research, led by a team at the University of Utah, Salt Lake City, has shown that single nucleotide polymorphism (SNP) analysis of a single gene indicates that five particular variants are significantly associated with neovascular AMD. The gene, Flt1 (fms-related tyrosine kinase 1), encodes a member of the vascular endothelial growth factor receptor (VEGFR) family containing an extracellular ligand-binding region with seven immunoglobulin (Ig)-like domains, a transmembrane segment, and a tyrosine kinase (TK) domain within the cytoplasmic domain. The research demonstrated that Flt1 SNPs rs9943922, rs9508034, rs2281827, rs7324510, and rs9513115 were significantly associated with an increased risk of neovascular AMD. Bioinformatic analysis showed that the variants had altered splice sites and RNA secondary structure, previously identified in other neovascular pathologies. While the researchers did not characterize the exact variant functions the information nonetheless appeared consistent across ethnically diverse genetic backgrounds and as such may hold potential utility for a broad number of AMD patients.
Genetic variation in the FLT1 gene may predispose to neovascular degeneration
- by swdadmin