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deCODE genetics Announces Third Quarter 2007 Financial Results
Date:11/5/2007

prevention efforts.

Target Discovery

-- Glaucoma. In August, deCODE scientists published the discovery of two

common SNPs 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. The company is using this discovery to create a

DNA-based diagnostic test that can aid in risk assessment and early

detection of XFG, enabling earlier therapeutic intervention to relieve

pressure on the optic nerve and minimize vision loss.

-- Pigmentation. deCODE has discovered variations in the human genome that

influence pigmentation of hair, eyes and skin. By studying more than

300,000 SNPs (single-letter variants in the human genome) across the

whole genome in close to seven thousand individuals of European origin,

the deCODE team discovered several novel SNPs influencing hair, eye,

and skin pigmentation, at the same time refining earlier findings

influencing these traits. The findings contribute to an understanding

of the molecular basis for and evolution of these most visible of

characteristics, and may be useful for teasing out the biology of skin

and eye disease as well as for forensic DNA analysis

About deCODE

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SOURCE deCODE genetics
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