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, Min Geol Lee, Tae Jin Yoon, Chang Deok Kim, Jeung Hoon Lee, Jae Sook Koh, Young Kyoung Seo, Min Youl Chang, Young Lee

Research output: Contribution to journalArticlepeer-review

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 × 104). 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

Bibliographical note

Funding Information:
This study was supported by a grant of the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (Grant No. HN10C0013).

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology

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