Researchers Identify Genomic Variant Associated with Sun Sensitivity, Brown Hair, Blue Eyes and Freckles

Researchers have identified a genomic variant strongly associated with sensitivity to the sun, brown hair, blue eyes — and freckles. In the study of Icelanders the researchers uncovered an intricate pathway involving the interspersed DNA sequence, or non-coding region, of a gene that is among a few dozen that are associated with human pigmentation traits. The study by an international team including researchers from the National Institutes of Health was reported in the journal Cell [1].

Brown hair blue eyes freckles

Genetic Test Results Do Not Trigger Increased Use of Health Services

People have increasing opportunities to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminish test recipients’ demand for potentially costly follow-up health services, according to a study performed by researchers at the National Institutes of Health and colleagues at other institutions.

Genetic Testing

UV Photography Shows that Melanoma Risk Factors Correlate with Sun Damage

There are a number of physical characteristics associated with increased risk of skin cancer, and more specifically, with melanoma, a particularly dangerous and aggressive form of skin cancer. These include blue eyes, red hair, freckles on the face, a significant number of moles on the body, and light skin. While these factors have long been used by dermatologists to predict those individuals who would be at greatest risk of melanoma, a new study in the Journal of the American Academy of Dermatology uses a novel approach to demonstrate that there’s a relationship between these factors and visible signs of sun damage [1]. Researchers used ultraviolet (UV) photography to compare the skin of 12-year-old participants; under UV light, sun damaged areas appear darkened. UV photographic equipment is similar in many regards to the tools employed in regular photography, though the flash is UV rather than visible light, and much of the processing software is different.

UV skin damage
A 35-year-old melanoma survivor. Skin under normal (left) and UV light (right). Dark areas on the right is damage from the sun.

Those pre-teens with multiple melanoma risk factors had increased sun damage compared to those with fewer risk factors. This finding is particularly distressing given that the signs of sun damage in those with multiple risk factors were significant, even relatively early in life.

The researchers suggest that UV photography could be incorporated into sun awareness intervention programs, as seeing a photograph of existing sun damage can be more persuasive to teens and young adults than vague warnings about the dangers of sun exposure. Further, note the researchers, the results of the study suggest that UV photography is most likely to be an effective intervention technique for those individuals who have multiple melanoma risk factors, as they are most likely to show significant sun damage early in life.


  1. Gamble et al. Sun damage in ultraviolet photographs correlates with phenotypic melanoma risk factors in 12-year-old children. J Am Acad Dermatol. 2012 Mar 9. [Epub ahead of print]
    View abstract

Genetic Link Predisposes to Mesothelioma

An investigation led by scientists at the University of Hawaii Cancer Center, Honolulu, and Fox Chase Cancer Center, Philadelphia has identified germline mutations in the BAP1 gene that predispose individuals to malignant mesothelioma. The research, published online yesterday in Nature Genetics, describes two U.S. families with a high incidence of mesothelioma, as well as other cancers, associated with mutations of the gene BAP1 [1].


Scientists have discovered that individuals who carry a mutation in a gene called BRCA1-associated protein 1 (BAP1) are susceptible to developing two forms of cancer — mesothelioma and melanoma of the eye. When these individuals are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma, an aggressive cancer of the lining of the chest and abdomen, may be markedly increased.