It's Not Just the Sun: deCODE Discovers Sequence Variants Affecting Susceptibility to Skin Cancer
06 Juillet 2009 - 1:07PM
PR Newswire (US)
New risk factors for basal cell carcinoma that are independent of
fair pigmentation; findings to be integrated into deCODEme(TM) and
deCODEme Cancer(TM) scans REYKJAVIK, Iceland, July 6
/PRNewswire-FirstCall/ -- Scientists at deCODE genetics
(NASDAQ:DCGN) and academic colleagues from Europe and the United
States today present in the journal Nature Genetics the discovery
of common genetic risk factors for basal cell carcinoma (BCC) that
affect people with fair and dark complexions alike. deCODE had
previously discovered five common single-letter variants in the
sequence of the human genome (SNPs) linked to risk of BCC, the most
common cancer in people of European descent. However, most of these
earlier findings were also correlated with fair skin, well known to
accompany vulnerability to the damaging effects of ultraviolet
radiation in sunlight. By contrast, three of the SNPs presented
today do not correlate with light pigmentation, and may thus
provide new insight into the underlying biological perturbations
that lead to BCC independent of environmental exposure. One of
these, in the keratin 5 (KRT5) gene on chromosome 12, leads to a
subtle but potentially damaging alteration to the KRT5 protein,
which supports the structural integrity of the skin. Those with one
copy of the variant are at more than 30% greater likelihood of
developing BCC than those who do not carry the variant, while those
who carry two copies are at more than 50% greater risk. Another of
the SNPs is located on chromosome 9p21, the same region of the
genome that deCODE has linked to increased risk of heart attack and
others have linked to type 2 diabetes. deCODE used its population
genetics resources in Iceland to demonstrate that a third risk
variant, on chromosome 7q32, confers greater risk if inherited from
the father than from the mother. "It is important to find genetic
causes of BCC that do not appear to be modulated directly by
sensitivity to the sun. This may bring us closer to understanding
the underlying biology of a very common form of cancer, and KRT5 in
particular may point us to new pathways for developing new drugs or
skin care products. We are also pleased to be able to fold these
discoveries directly into our deCODEme(TM) scans. For sun exposure
is still the most important risk factor for BCC, and while people
with fair skin are already aware of the need to protect themselves
when they go outdoors, others with darker complexions may also be
at higher risk of BCC than they think. This is also one of the
first reports of a sequence variant conferring risk of a disease
that is dependent on the parent of origin. With all of our findings
over the past year, we believe we have found variants that play a
role in most cases of BCC," said Kari Stefansson, CEO of deCODE.
The study also provided conclusive evidence that a previously
identified SNP in the TERT-CLPTM1L region of chromosome 5 confers
susceptibility to BCC but protects agains cutaneous melanoma. A
previously known SNP in the SLC45A2 gene on chromosome 5 was
confirmed to confer risk of squamous cell carcinoma as well as BCC.
The study involved three stages. First, the SNPs with the best
results from previous genome-wide scans of more than 300,000 SNPs
were tested in large numbers of individuals with and without BCC.
The first two phases included participants from Iceland, The
Netherlands, Sweden, Germany, Italy, Hungary, Romania, and
Slovakia. The SNPs on chromosomes 12, 9p21 and 7q32, as well as
those on chromosome 5, were then tested and confirmed in
participants from the United States and Spain. In all, the study
included genotypic data from some 45,000 people. deCODE and its
collaborators would like to thank those who took part for making
the work possible. Financial support for various portions of the
work was provided by the US National Institutes of Health (grants
T32E007155, R01CA082354, and R01CA57494), Radboud University
Nijmegen Medical Center, the Netherlands, the National Bank of
Austria, the Radiumhemmet Research Funds and the Swedish Cancer
Society. About deCODE deCODE is a bio-pharmaceutical company
developing drugs and DNA-based tests to improve the treatment,
diagnosis and prevention of common diseases. Its lead therapeutic
programs, which leverage the company's expertise in chemistry and
structural biology, include DG041, an antiplatelet compound being
developed for the prevention of arterial thrombosis; DG051 and
DG031, compounds targeting the leukotriene pathway for the
prevention of heart attack; and DG071 and a platform for other PDE4
modulators with therapeutic applications in Alzheimer's disease and
other conditions. deCODE is a global leader in human genetics, and
has identified key variations in the genome (SNPs) conferring
increased risk of major public health challenges from
cardiovascular disease to cancer. Based upon these discoveries
deCODE has brought to market a growing range of DNA-based tests for
gauging risk and empowering prevention of common diseases. Through
its CLIA-registered laboratory, deCODE offers deCODE T2(TM) for
type 2 diabetes; deCODE AF(TM) for atrial fibrillation and stroke;
deCODE MI(TM) for heart attack; deCODE ProstateCancer(TM) for
prostate cancer; deCODE Glaucoma(TM) for a major type of glaucoma;
and deCODE BreastCancer, for the common forms of breast cancer.
deCODE is delivering on the promise of the new genetics.(SM) Visit
us on the web at http://www.decode.com/; on our diagnostics site at
http://www.decodediagnostics.com/; for our pioneering personal
genome analysis service and new focused disease scans, integrating
the genetic variants included in these tests and those linked to
another twenty common diseases, as well as for our new deCODEme
Cardio(TM) and deCODEme Cancer(TM) scans, at
http://www.decodeme.com/; and on our blog at
http://www.decodeyou.com/. Any statements contained in this
presentation that relate to future plans, events or performance are
forward-looking statements within the meaning of the Private
Securities Litigation Reform Act of 1995. These forward-looking
statements are subject to a number of risks and uncertainties that
could cause actual results, and the timing of events, to differ
materially from those described in the forward-looking statements.
These risks and uncertainties include, among others, those relating
to our ability to obtain sufficient financing to continue as a
going concern, our ability to develop and market diagnostic
products, the level of third party reimbursement for our products,
risks related to preclinical and clinical development of
pharmaceutical products, including the identification of compounds
and the completion of clinical trials, our ability to form
collaborative relationships, the effect of government regulation
and the regulatory approval processes, market acceptance, our
ability to obtain and protect intellectual property rights for our
products, dependence on collaborative relationships, the effect of
competitive products, industry trends and other risks identified in
deCODE's filings with the Securities and Exchange Commission,
including, without limitation, the risk factors identified in our
most recent Annual Report on Form 10-K and any updates to those
risk factors filed from time to time in our Quarterly Reports on
Form 10-Q or Current Reports on Form 8-K. deCODE undertakes no
obligation to update or alter these forward-looking statements as a
result of new information, future events or otherwise. DATASOURCE:
deCODE genetics CONTACT: Edward Farmer, +44-7796-010107, , or Gisli
Arnason, +354-570-1900, , or Joy Bessenger, +1-212-481-3891, , all
of deCODE genetics Web Site: http://www.decode.com/
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