deCODE genetics, Inc. Discovers Cause of Major Subtype of Glaucoma
Reykjavik, Iceland, August 9, 2007 – In a paper published today in the journal Science, scientists from deCODE genetics (Nasdaq:DCGN) and academic colleagues from the National University Hospital in Reykjavik and Uppsala University in Sweden report the discovery of two common single letter variations (SNPs) in the sequence of the human genome that appear to account for virtually all cases of a major subtype of glaucoma. The SNPs are located in the LOXL1 gene on chromosome 15, and confer respectively 26-fold and 8-fold increases in risk of exfoliation glaucoma compared to the low-risk versions of the same markers. Approximately 25% of those in the Icelandic and Swedish study cohorts were found to have two copies of the highest risk variant, putting them at approximately 100 times the likelihood of developing exfoliation glaucoma (XFG) as are individuals with the low risk version of the same SNP. The LOXL1 protein encoded by the gene is involved in the formation of elastin fibers which, when they accumulate in the eye, cause XFG.