A Mole Gene Among Us

Researchers locate variants associated with elevated nevus count, a melanoma risk factor.

Although the nevus and melanoma phenotypes are intricately linked, the genetic underpinnings of nevus formation are largely unknown. To search for loci associated with a high nevus count, researchers in the U.K. carried out a genome-wide association study (GWAS) in 1524 healthy adult female twins from the TwinsUK registry. Trained research nurses performed a complete body count of all nevi at least 2 mm in diameter.

Compared with expected distributions, the observed distribution highlighted 46 single nucleotide polymorphisms (SNPs) with P values <10^-4. The researchers chose 12 of these SNPs on chromosome 9p21 or the 22q13 region, for replication in an independent sample of 4107 adolescents of European ancestry from the Brisbane Twin Nevus St…

Reviewing Author

Hensin Tsao, MD, PhD

Disclosures

Consultant / advisory board Lubax; WorldCare Clinical

EquityLubax

Grant / Research support NIH; Department of Defense; American Skin Association; Piramal

Editorial boardsBritish Journal of Dermatology; Journal of the American Academy of Dermatology; Journal of Investigative Dermatology

Leadership positions in professional societies American Academy of Dermatology (Chair, Skin Cancer and Melanoma Committee); American Board of Dermatology (Director)