Variants in the TERT Gene Increase the Occurrence of Solar Lentigines by Modifying Telomerase Expression Exclusively in the Skin

Solar lentigines (SL) are a characteristic of the aging skin. There is a huge interindividual variability in the number of SL that are determined by a combination of genetic and environmental factors. While sun exposure represents the most important environmental factor (Bastiaens et al., 2004), the search for genetic susceptibility variants is still ongoing. Recently, a genome-wide association study (GWAS) in two Chinese cohorts (n=5,918) reported TERT (telomerase reverse transcriptase; top SNP rs2853672, p=5.68E-42) and OCA2 (oculocutaneous albinism II; rs1800414, p=4.67E-8) as two previously unreported genome-wide significant loci associated with a composite SL phenotype score based on the forearm and hands.