Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study

Taek Jong Kwak, Yun Hee Chang, Young Ah Shin, Jung Min Shin, Ji Hye Kim, Seul Ki Lim, Sang Hwha Lee, Mingeol Lee, Tae Jin Yoon, Chang Deok Kim, Jeung Hoon Lee, Jae Sook Koh, Young Kyoung Seo, Min Youl Chang, Young Lee

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2 Citations (Scopus)

Abstract

A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals.

Original languageEnglish
Pages (from-to)942-946
Number of pages5
JournalExperimental dermatology
Volume24
Issue number12
DOIs
Publication statusPublished - 2015 Dec 1

Fingerprint

Tanning
Polymorphism
Single Nucleotide Polymorphism
Skin
Nucleotides
Phenotype
Melanocytes
Genes
Skin Pigmentation
Monophenol Monooxygenase
MicroRNAs
Adenoviridae
Introns
Oxidoreductases

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

Cite this

Kwak, Taek Jong ; Chang, Yun Hee ; Shin, Young Ah ; Shin, Jung Min ; Kim, Ji Hye ; Lim, Seul Ki ; Lee, Sang Hwha ; Lee, Mingeol ; Yoon, Tae Jin ; Kim, Chang Deok ; Lee, Jeung Hoon ; Koh, Jae Sook ; Seo, Young Kyoung ; Chang, Min Youl ; Lee, Young. / Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study. In: Experimental dermatology. 2015 ; Vol. 24, No. 12. pp. 942-946.
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abstract = "A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals.",
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Kwak, TJ, Chang, YH, Shin, YA, Shin, JM, Kim, JH, Lim, SK, Lee, SH, Lee, M, Yoon, TJ, Kim, CD, Lee, JH, Koh, JS, Seo, YK, Chang, MY & Lee, Y 2015, 'Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study', Experimental dermatology, vol. 24, no. 12, pp. 942-946. https://doi.org/10.1111/exd.12809

Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study. / Kwak, Taek Jong; Chang, Yun Hee; Shin, Young Ah; Shin, Jung Min; Kim, Ji Hye; Lim, Seul Ki; Lee, Sang Hwha; Lee, Mingeol; Yoon, Tae Jin; Kim, Chang Deok; Lee, Jeung Hoon; Koh, Jae Sook; Seo, Young Kyoung; Chang, Min Youl; Lee, Young.

In: Experimental dermatology, Vol. 24, No. 12, 01.12.2015, p. 942-946.

Research output: Contribution to journalArticle

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T1 - Identification of a possible susceptibility locus for UVB-induced skin tanning phenotype in Korean females using genomewide association study

AU - Kwak, Taek Jong

AU - Chang, Yun Hee

AU - Shin, Young Ah

AU - Shin, Jung Min

AU - Kim, Ji Hye

AU - Lim, Seul Ki

AU - Lee, Sang Hwha

AU - Lee, Mingeol

AU - Yoon, Tae Jin

AU - Kim, Chang Deok

AU - Lee, Jeung Hoon

AU - Koh, Jae Sook

AU - Seo, Young Kyoung

AU - Chang, Min Youl

AU - Lee, Young

PY - 2015/12/1

Y1 - 2015/12/1

N2 - A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals.

AB - A two-stage genomewide association (GWA) analysis was conducted to investigate the genetic factors influencing ultraviolet (UV)-induced skin pigmentation in Korean females after UV exposure. Previously, a GWA study evaluating ~500 000 single nucleotide polymorphisms (SNPs) in 99 Korean females identified eight SNPs that were highly associated with tanning ability. To confirm these associations, we genotyped the SNPs in an independent replication study (112 Korean females). We found that a novel SNP in the intron of the WW domain-containing oxidoreductase (WWOX) gene yielded significant replicated associations with skin tanning ability (P-value = 1.16 × 10(-4) ). To understand the functional consequences of this locus located in the non-coding region, we investigated the role of WWOX in human melanocytes using a recombinant adenovirus expressing a microRNA specific for WWOX. Inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Taken together, our results suggest that genetic variants in the intronic region of WWOX could be determinants in the UV-induced tanning ability of Korean females. WWOX represents a new candidate gene to evaluate the molecular basis of the UV-induced tanning ability in individuals.

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