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

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.

journal_name

Exp Dermatol

journal_title

Experimental dermatology

authors

Kwak TJ,Chang YH,Shin YA,Shin JM,Kim JH,Lim SK,Lee SH,Lee MG,Yoon TJ,Kim CD,Lee JH,Koh JS,Seo YK,Chang MY,Lee Y

doi

10.1111/exd.12809

subject

Has Abstract

pub_date

2015-12-01 00:00:00

pages

942-6

issue

12

eissn

0906-6705

issn

1600-0625

journal_volume

24

pub_type

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