Novel gene identified in an exome-wide association study of tanning dependence

Brenda Cartmel, Andrew Dewan, Leah M. Ferrucci, Joel Gelernter, Jerod Stapleton, David J. Leffell, Susan T. Mayne, Allen E. Bale

Research output: Contribution to journalLetterpeer-review

11 Scopus citations


Growing evidence suggests that some individuals may exhibit symptoms of dependence to ultraviolet light, a known carcinogen, in the context of tanning. Genetic associations with tanning dependence (TD) have not yet been explored. We conducted an exome-wide association study in 79 individuals who exhibited symptoms of TD and 213 individuals with volitional exposure to ultraviolet light, but who were not TD based on three TD scales. A total of 300 000 mostly exomic single nucleotide polymorphisms primarily in coding regions were assessed using an Affymetrix Axiom array. We performed a gene burden test with Bonferroni correction for the number of genes examined (P < 0.05/14 904 = 3.36 × 10-6). One gene, patched domain containing 2 (PTCHD2), yielded a statistically significant P-value of 2.5 × 10-6 (OR = 0.27) with fewer individuals classified as TD having a minor allele at this locus. These results require replication, but are the first to support a specific genetic association with TD.

Original languageEnglish
Pages (from-to)757-759
Number of pages3
JournalExperimental Dermatology
Issue number10
StatePublished - Oct 1 2014

Bibliographical note

Publisher Copyright:
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.


  • Genetic association
  • PTCHD2 gene
  • Tanning dependence

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology


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