While one study in Nature Genetics associated variants to specific pigmentation traits, a second implicated them in cutaneous melanoma and basal cell carcinoma.

deCODE and academic colleagues from Europe and the U.S.  report new findings in the genetics of pigmentation traits in people of European descent and demonstrate that certain variants also confer risk to two types of skin cancer. Two papers discussing these findings were published in May 18 issue of Nature Genetics.


In the first paper, utilizing genomic analysis of nearly 8,500 Icelandic and Dutch participants, the researchers identified a tightly-linked pair of SNPs near the ASIP (agouti signaling protein) gene on chromosome 20 that greatly increases the likelihood of an individual being prone to freckles and sunburn. An SNP in the TYR gene on chromosome 11, previously linked by deCODE to eye color, was also shown to confer susceptibility to sunburn.


In the second paper, the team set out to investigate whether the variants it had linked to pigmentation traits were also associated with risk of cutaneous melanoma (CM) and basal cell carcinoma (BCC). Studies involving a total of about 45,000 CM and BCC patients and control subjects showed that carrying one set of the ASIP variants corresponds to a 45% increased risk of CM and a 33% hightened chance of BCC compared to noncarriers. Each copy of the TYR variant was found to confer a 20% and 14% increase in risk of CM and BCC, respectively, compared to noncarriers.


These increases in risk remain significant even after accounting for the effect of the pigmentation traits themselves on cancer risk, according to the scientific team. Furthermore, several other variants that deCODE also linked to freckling and sensitivity to sun did not show any detectable link to skin cancer.

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