Genome-Wide Association Study Identifies Genetic Associations with Perceived Age

J Invest Dermatol. 2020 Dec;140(12):2380-2385. doi: 10.1016/j.jid.2020.03.970. Epub 2020 Apr 24.


Failure of dermal protection or repair mechanisms might lead to visibly aged skin. The study aimed to identify genetic associations with perceived age. A genome-wide association study was undertaken in 423,992 adult participants of UK Biobank, using questionnaire data on perceived age and genetic data imputed to the Haplotype Reference Consortium imputation panel. The study identified 74 independently associated genetic loci, to our knowledge previously unreported (P < 5 × 10-8), which were enriched for cell signaling pathways, including the NEK6 and SMAD2 subnetworks. Common genetic variation was estimated to account for 14% of variation in perceived age, and the heritability of perceived age was partially shared with that of 75 other traits, including multiple traits representing adiposity, suggesting that perceived age may be a useful proxy trait in genetic association studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adiposity / genetics*
  • Adult
  • Age Factors
  • Aged
  • Female
  • Genetic Loci
  • Genome-Wide Association Study
  • Humans
  • Male
  • Middle Aged
  • NIMA-Related Kinases / metabolism
  • Physical Appearance, Body / genetics*
  • Polymorphism, Single Nucleotide
  • Protein Interaction Maps / genetics
  • Signal Transduction / genetics
  • Skin / radiation effects
  • Skin Aging / genetics*
  • Smad2 Protein / metabolism
  • Ultraviolet Rays / adverse effects


  • SMAD2 protein, human
  • Smad2 Protein
  • NEK6 protein, human
  • NIMA-Related Kinases