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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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