Further evidence of genetic key to melanoma

August 7, 2015

Highlights of research

University of Leeds researchers, working with colleagues from the QIMR Berghofer Medical Research Institute in Brisbane, have uncovered further evidence that protective buffers at the ends of chromosomes - telomeres - are fundamental to the understanding of melanoma.

The team collected data from 11 studies of 15,990 melanoma patients and 26,409 healthy volunteers.In addition to the role of telomeres, the researchers also found more evidence that skin pigmentation is a key genetic determinant of melanoma.

According to Dr Mark Iles, one of the co-leads of the study, “we now know of 20 common genetic risk factors and 12 of these are clearly related to either telomere length, pigmentation or the number of moles an individual has. These last two factors are particularly important, because they are long-established as indicators of risk for melanoma. This reinforces the message that anyone with pale skin and many moles should take extra care when in the sun.”

Study abstract

Thirteen common susceptibility loci have been reproducibly associated with cutaneous malignant melanoma (CMM). We report the results of an international 2-stage meta-analysis of CMM genome-wide association studies (GWAS). This meta-analysis combines 11 GWAS (5 previously unpublished) and a further three stage 2 data sets, totaling 15,990 CMM cases and 26,409 controls. Five loci not previously associated with CMM risk reached genome-wide significance (P< 5 × 10−8), as did 2 previously reported but unreplicated loci and all 13 established loci. Newly associated SNPs fall within putative melanocyte regulatory elements, and bioinformatic and expression quantitative trait locus (eQTL) data highlight candidate genes in the associated regions, including one involved in telomere biology.

Sources:

Law MH, et al. Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics (2015) doi:10.1038/ng.3373. http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3373.html

University of Leeds media release: http://www.leeds.ac.uk/news/article/3733/further_e...