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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 
 EXPERIMENTAL DERMATOLOGY, Vol.24(12) : 942-946, 2015 
Journal Title
Issue Date
Adult ; Asian Continental Ancestry Group ; Cells, Cultured ; Female ; Gene Knockdown Techniques ; Genetic Predisposition to Disease* ; Genome-Wide Association Study ; Humans ; Introns ; Melanocytes/enzymology ; Melanocytes/radiation effects ; MicroRNAs/genetics ; Middle Aged ; Oxidoreductases/antagonists & inhibitors ; Oxidoreductases/genetics* ; Oxidoreductases/metabolism ; Phenotype ; Polymorphism, Single Nucleotide ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism ; Republic of Korea ; Skin/enzymology* ; Skin/radiation effects* ; Skin Pigmentation/genetics* ; Skin Pigmentation/physiology ; Skin Pigmentation/radiation effects* ; Tumor Suppressor Proteins/antagonists & inhibitors ; Tumor Suppressor Proteins/genetics* ; Tumor Suppressor Proteins/metabolism ; Ultraviolet Rays/adverse effects* ; WW Domain-Containing Oxidoreductase
UVB ; WW domain-containing oxidoreductase ; genomewide association study ; phenotype ; tanning
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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1. College of Medicine (의과대학) > Dept. of Dermatology (피부과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Min Geol(이민걸) ORCID logo https://orcid.org/0000-0001-7040-5335
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