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

doi:10.1111/exd.12503

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

Health, Behavior, and Society

Research output: Contribution to journal › Letter › peer-review

11 Scopus citations

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.

Original language	English
Pages (from-to)	757-759
Number of pages	3
Journal	Experimental Dermatology
Volume	23
Issue number	10
DOIs	https://doi.org/10.1111/exd.12503
State	Published - Oct 1 2014

Bibliographical note

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

Keywords

Genetic association
PTCHD2 gene
Tanning dependence

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Dermatology

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10.1111/exd.12503

Cite this

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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.",

keywords = "Genetic association, PTCHD2 gene, Tanning dependence",

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doi = "10.1111/exd.12503",

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AU - Cartmel, Brenda

AU - Dewan, Andrew

AU - Ferrucci, Leah M.

AU - Gelernter, Joel

AU - Stapleton, Jerod

AU - Leffell, David J.

AU - Mayne, Susan T.

AU - Bale, Allen E.

PY - 2014/10/1

Y1 - 2014/10/1

N2 - 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.

AB - 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.

KW - Genetic association

KW - PTCHD2 gene

KW - Tanning dependence

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

Access to Document

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