A genome‐wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans

Abstract

Background Genome-wide association studies (GWASs) have identified genes influencing skin ageing and mole count in Europeans, but little is known about the relevance of these (or other genes) in non-Europeans. Objectives To conduct a GWAS for facial skin ageing and mole count in adults < 40 years old, of mixed European, Native American and African ancestry, recruited in Latin America. Methods Skin ageing and mole count scores were obtained from facial photographs of over 6000 individuals. After quality control checks, three wrinkling traits and mole count were retained for genetic analyses. DNA samples were genotyped with Illumina's HumanOmniExpress chip. Association testing was performed on around 8 703 729 single-nucleotide polymorphisms (SNPs) across the autosomal genome.

Identification of novel skin ageing genes: evidence from across the pigmentary continuum

“…As previously reported in European skin, Chen et al 5 . confirm an association for skin wrinkling with polymorphisms in the IRF4 , MC1R and SLC45A2 genes – indicating their conserved nature.…”

“…In this issue of the BJD , Chen et al 5 . describe the results of a large‐scale genome‐wide association study (GWAS) assessing features of facial skin ageing and mole count in Latin American adults of mixed European, Native American and African ancestry; that is, across the pigmentary continuum.…”

Protective Role of Melatonin and Its Metabolites in Skin Aging

“…These genetic variations identified in skin color genes contribute to facial pigmented spots during aging through pathways independent of the melanin production [58]. Recently, the association of variants in IRF4, MC1R, and SLC45A2 with skin wrinkling was confirmed in more ethnic groups [59]. The same study, using Latin Americans of a production [58].…”

“…The same study, using Latin Americans of a production [58]. Recently, the association of variants in IRF4, MC1R, and SLC45A2 with skin wrinkling was confirmed in more ethnic groups [59]. The same study, using Latin Americans of a mixed continental ancestry cohort, reported genetic variations in two new candidate genes, VAV3 and SLC30A1, associated with facial skin wrinkling and mole count, respectively [59].…”

“…Recently, the association of variants in IRF4, MC1R, and SLC45A2 with skin wrinkling was confirmed in more ethnic groups [59]. The same study, using Latin Americans of a mixed continental ancestry cohort, reported genetic variations in two new candidate genes, VAV3 and SLC30A1, associated with facial skin wrinkling and mole count, respectively [59]. Epigenetic mechanisms are also implicated in the direct regulation of the homeostasis and regeneration of the aged skin [60].…”