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Aug 10, 2007

deCode Discovers Mutations Linked to a Type of Glaucoma

  • deCODE genetics reports the discovery of two common SNPs that increase the risk of a major subtype of glaucoma. The SNPs, allele G of rs1048661 and allele G of rs3825942, are located on the LOXL1 gene on chromosome 15. They raise the chances of developing exfoliation glaucoma (XFG) by 26-fold and 8-fold, respectively, and 100-fold together compared to the low-risk versions of the same markers .

    “The risk conferred by these variants is such that it accounts for virtually all cases of exfoliation glaucoma, meaning that if we can neutralize the impact of these variants we might eliminate the disease,” points out Kari Stefansson, CEO of deCODE. 

    “The LOXL1 protein made by this gene appears to play a role in the accumulation of microfibullar deposits that cause XFG, providing a promising mechanism to target for developing therapy.”

    The deCODE team first analyzed more than 300,000 SNPs in Icelandic and Swedish glaucoma patients and control subjects, utilizing the Illumina Hap300 SNP chip. One SNP was strongly linked to exfoliation syndrome, in which fibrous deposits begin to accumulate in the front of the eye but have not yet begun to impair vision. The researchers then analzed additional SNPs in public databases that were not included on the chip.

    The study was conducted in collaboration with colleagues at the National University Hospital in Reykjavik and Uppsala University in Sweden and is published in the  August 10 edition of Science.



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