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

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

Brenda Cartmel  1 , Andrew Dewan, Leah M Ferrucci, Joel Gelernter, Jerod Stapleton, David J Leffell, Susan T Mayne, Allen E Bale
Affiliations

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

Brenda Cartmel et al. Exp Dermatol. 2014 Oct.

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.

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Conflict of interest statement

Conflict of Interest: None of the authors have any financial disclosure or conflict of interest to report.

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