deCODE genetics Announces Second Quarter 2008 Financi...(bove-average risk ofbreast cancer should...)

Target Discovery

-- Schizophrenia. The deCODE-led SGENE Consortium, funded by the European Union, recently discovered three rare deletions in the human genome that confer risk of schizophrenia. The deletions are located on chromosomes 1q21, 15q11 and 15q13, and confer, respectively, 3, 15 and 12 times greater than average risk of schizophrenia. These are the first such deletions to be associated with risk of mental illness using large sample sizes and validated across many populations. The substantial increase in risk they confer make them a valuable basis upon which to develop molecular diagnostic tests to complement standard clinical diagnosis.

-- Skin cancer. deCODE discovered sequence variants near the ASIP (agouti signaling protein) gene on chromosome 20 that greatly increase the likelihood of an individual being prone to freckles and sunburn. A SNP in the TYR (tyrosinase) gene on chromosome 11, previously linked by deCODE to eye color, was here shown also to confer susceptibility to sunburn. The deCODE team went on to explore the role of these variants in two major skin cancers -- cutaneous melanoma (CM) and basal cell carcinoma (BCC) -- and found that carrying one set of the ASIP variants, which 15% of the population does, was shown to correspond to a 45% increase in risk of CM and 33% increase in risk of BCC compared to non-carriers. Each copy of the TYR variant, of which 35% of people carry at least one copy, was found to confer a 20% increased risk of CM and a 14% increase in risk of BCC compared to non-carriers. These findings provide new insight into the biology of skin cancer, and may be used as diagnostic markers to identify those who should moderate their exposure to the sun.

-- Bone mineral density. deCODE discovered several single letter variants (SNPs) at five different sites in the human gen
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