deCODE Discovers Genetic Links between Pigmentation Traits and Risk of Skin Cancer
News May 19, 2008
In two papers published, 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).
“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,” said Kari Stefansson, CEO of deCODE.
Stefansson continued, “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™ service.
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 in the online edition of Nature Genetics, at www.nature.com/ng, and will be published in an upcoming print edition of the journal.
As genome editing technologies advance toward clinical therapies, they are raising hopes of a completely new way to treat disease. However, challenges need to be addressed before potential treatments can be widely used in patients. To tackle these challenges, the National Institutes of Health has launched the Somatic Cell Genome Editing program, which has awarded multiple grants including more than $3.6 million to assess the safety of genome editing in human cells and tissues.