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Novel gene identified in an exome‐wide association study of tanning dependence
Author(s) -
Cartmel Brenda,
Dewan Andrew,
Ferrucci Leah M.,
Gelernter Joel,
Stapleton Jerod,
Leffell David J.,
Mayne Susan T.,
Bale Allen E.
Publication year - 2014
Publication title -
experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.108
H-Index - 96
eISSN - 1600-0625
pISSN - 0906-6705
DOI - 10.1111/exd.12503
Subject(s) - bonferroni correction , genetics , exome sequencing , context (archaeology) , minor allele frequency , genetic association , locus (genetics) , gene , allele , single nucleotide polymorphism , biology , allele frequency , genotype , mutation , paleontology , statistics , mathematics
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 ( PTCHD 2) , 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 .