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( Yun Hee Chang ),( Taek Jong Kwak ),( Young Ah Shin ),( Jung Min Shin ),( In Kyu Chang ),( Bomi Won ),( Min Youl Chang ),( Sang Hwha Lee ),( Hyun Kyung Jung ),( Chang Deok Kim ),( Jeung Hoon Lee ),( 대한피부과학회 2014 대한피부과학회 학술발표대회집 Vol.66 No.2
Background: Human skin phenotypes such as whitening, wrinkle and moisture are regulated by various factors such as genetic, environmental, and endocrine factors. Among these factors, genetic factor is one of the most potent determinants in skin phenotypes and has polygenic quantitative traits between races Objectives: We investigated the genetic factors influencingskin phenotypes(whitening, wrinkle and moisture) in Korean women Methods: For the genetic study for skin phenotypes in Korean women, we measured whitening, wrinkle and moisture in 300 women aged 30-50 and finally 78 women who show extreme phenotype were selected. Oragene® saliva kit was used to collect highly pure DNA from saliva of volunteers and Ion Proton™ sequencer was used for exome sequencing Results: Using the logistic regression analysis, we found top 10 genes in each skin phenotypes (whitening, wrinkle and moisture) which are statistically significant Conclusion: Our results suggest that multiple genetic variants in exon region could be determinant of an individual’s skin phenotypes such as whitening, wrinkle and moisture in Korean women
( Taek Jong Kwak ),( Yun Hee Chang ),( Young Ah Shin ),( Jung Min Shin ),( Hyeong Rae Kim ),( Bomi Won ),( Min Youl Chang ),( Sang Hwha Lee ),( Hyun Kyung Jung ),( Chang Deok Kim ),( Jeung Hoon Lee ) 대한피부과학회 2014 대한피부과학회 학술발표대회집 Vol.66 No.2
Background: Human skin pigmentation is regulated by various factors such as genetic, environmental, and endocrine factors. Among these factors, genetic factor is one of the most potent determinants in skin pigmentation phenotype and has polygenic quantitative traits. Objectives: We investigated the genetic factors influencing UV-induced skin pigmentation in Korean women. Methods: We carried out a multistage genome-wide association study after exposure to UV in Korean women and examined the effect of selected gene on melanogensis in normal human epidermal melanocytes. Results: In an initial discovery stage, meta-analysis of two GWA studies of 500K single nucleotide polymorphisms on 97 Korean women identified 9 SNPs as loci highly associated with tanning ability. We further genotyped these SNPs in an independent replication study. We found that a novel SNP in the intron of WWOX gene yielded highly significant replicated associations with skin tanning ability. To understand the functional consequences of this locus, we investigated the role of WWOX in human melanocytes and inhibition of WWOX expression significantly increased the expression and activity of tyrosinase in human melanocytes. Conclusion: Our results suggest that genetic variants in intronic region such as SNP in WWOX could be determinant of an individual’s UV-induced tanning ability. WWOX gene represents a new candidate gene to study the molecular basis of an individual’s UV-induced tanning ability.