title: Novel gene identified in an exome-wide association study of tanning dependence.
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.
authors.affiliation: Yale School of Public Health, New Haven, CT, USA; Yale Cancer Center, New Haven, CT, USA.
authors.forename: Brenda
authors.initials: B
authors.lastname: Cartmel
authors.forename: Andrew
authors.initials: A
authors.lastname: Dewan
authors.forename: Leah M
authors.initials: LM
authors.lastname: Ferrucci
authors.forename: Joel
authors.initials: J
authors.lastname: Gelernter
authors.forename: Jerod
authors.initials: J
authors.lastname: Stapleton
authors.forename: David J
authors.initials: DJ
authors.lastname: Leffell
authors.forename: Susan T
authors.initials: ST
authors.lastname: Mayne
authors.forename: Allen E
authors.initials: AE
authors.lastname: Bale
mesh_terms: D000483:Alleles; D002280:Basal Cell Carcinoma / Q000209:etiology / Q000235:genetics; D016022:Case-Control Studies; D005091:Exons; D056726:Genetic Association Studies; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D001523:Mental Disorders / Q000235:genetics*; D009381:Neoplasms, Radiation-Induced / Q000209:etiology / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012878:Skin Neoplasms / Q000209:etiology / Q000235:genetics; D055108:Sunbathing / Q000523:psychology*; D055107:Suntan / Q000235:genetics*
chemical_list: C502279:DISP3 protein, human; D008565:Membrane Proteins
keywords: PTCHD2 gene; genetic association; tanning dependence