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

Exp Dermatol. 2014 Oct;23(10):757-9. doi: 10.1111/exd.12503.

Abstract

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.

Keywords: PTCHD2 gene; genetic association; tanning dependence.

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Alleles
  • Carcinoma, Basal Cell / etiology
  • Carcinoma, Basal Cell / genetics
  • Case-Control Studies
  • Exons
  • Genetic Association Studies
  • Humans
  • Membrane Proteins / genetics*
  • Mental Disorders / genetics*
  • Neoplasms, Radiation-Induced / etiology
  • Neoplasms, Radiation-Induced / genetics
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics
  • Sunbathing / psychology*
  • Suntan / genetics*

Substances

  • DISP3 protein, human
  • Membrane Proteins