deCODE Discovers Novel Genetic Links Between Pigmentation Traits and Risk of
Skin Cancer
Discoveries help to detail how some fair coloring traits contribute to risk of
skin cancer; findings will be integrated into the deCODEme(TM) service
REYKJAVIK, Iceland, May 18 /PRNewswire/ -- In two papers published today,
deCODE scientists and academic colleagues from Europe and the U.S. expand upon
the company's recent findings in the genetics of pigmentation traits in people
of European descent, and demonstrate that certain of these common variants
also confer risk of two types of skin cancer. In the first paper, utilizing
genomic analysis of nearly 8,500 Icelandic and Dutch participants, the deCODE
team identified a novel, tightly-linked pair of single-letter variants (SNPs)
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.
Both ASIP and TYR are known to play a role in pigmentation.
Because very fair skin, blue or green eyes, freckles, red hair, and
exposure to ultraviolet light are all known risk factors for skin cancer, in
the second paper the deCODE team set out to investigate whether the variants
it had linked to pigmentation traits also associated with risk of cutaneous
melanoma (CM) and basal cell carcinoma (BCC). CM is the most dangerous form of
skin cancer, while BCC is very common but does not frequently spread to other
parts of the body. In case-control and replication studies involving a total
of some 45,000 CM and BCC patients and control subjects from Iceland, Sweden,
Spain, Hungary, Romania and Slovakia, 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 increases in risk remain significant even
after accounting for the effect of the pigmentation traits themselves on
cancer risk. Furthermore, several other variants that deCODE has also linked
to freckling and sensitivity to sun did not show any detectable link to skin
cancer.
"It is common knowledge that people with fairer complexions tend to be
more sensitive to the sun, and that extensive exposure to sun or repeated
burning can increase the risk of skin cancers. But we are now showing that
there are a variety of different genetic bases for what appear to be the same
pigmentation characteristics, and we have demonstrated that certain of these
carry with them greater risk of skin cancer than do others. This information
is important for understanding the biology of skin cancers, particularly as it
appears that these variants may be conferring some of this additional risk
through a mechanism independent of their role in giving rise to sun-sensitive
skin. These findings may also be useful for helping individuals to better
gauge their susceptibility to skin cancer, and we are therefore very pleased
to be including these variants in our deCODEme(TM) service," said Kari
Stefansson, CEO of deCODE.
The papers, 'Two newly identified genetic determinants of pigmentation in
Europeans' and 'ASIP and TYR pigmentation variants associate with cutaneous
melanoma and basal cell carcinoma,' are published today in the online edition
of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming
print edition of the journal.
This research was supported in part by the Intramural Research Program of
the National Institutes of Health, National Cancer Institute, Division of
Cancer Epidemiology and Genetics, by a subcontract agreement to deCODE
Genetics under Westat contract N02-CP-91026 to the National Cancer Institute.
The Swedish portion of the study received financial support from the Swedish
Cancer Society, the Radiumhemmet Research Funds and the Swedish Research
Council.
About deCODE
deCODE is a biopharmaceutical company applying its discoveries in human
genetics to the development of diagnostics and drugs for common diseases.
deCODE is a global leader in gene discovery - our population approach and
resources have enabled us to isolate key genes contributing to major public
health challenges from cardiovascular disease to cancer, genes that are
providing us with drug targets rooted in the basic biology of disease. Through
its CLIA-registered laboratory, deCODE is offering a growing range of DNA-
based tests for gauging risk and empowering prevention of common diseases,
including deCODE T2(TM) for type 2 diabetes; deCODE AF(TM) for atrial
fibrillation and stroke; deCODE MI(TM) for heart attack; deCODE ProCa(TM) for
prostate cancer; and deCODE Glaucoma(TM) for a major type of glaucoma. deCODE
is delivering on the promise of the new genetics.(SM) Visit us on the web at
www.decode.com; on our diagnostics website at www.decodediagnostics.com; and,
for our pioneering personal genome analysis service, at www.decodeme.com.
Any statements contained in this presentation that relate to future plans,
events or performance are forward-looking statements within the meaning of the
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actual results, and the timing of events, to differ materially from those
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Contacts:
Edward Farmer Gisli Arnason Joy Bessenger
+1 212 343 2819 +354 570 1825 +1 212 481 3891
edward.farmer@decode.is gisli.arnason@decode.is joy.bessenger@decode.is
SOURCE deCODE
Edward Farmer, +1-212-343-2819, edward.farmer@decode.is, or Gisli Arnason,
+354-570-1825, gisli.arnason@decode.is, or Joy Bessenger, +1-212-481-3891,
joy.bessenger@decode.is, all of deCODE
