Document Detail


The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population.
MedLine Citation:
PMID:  17576235     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Vitiligo is a skin disorder affected by genetic, environmental, local and endocrine factors. Endothelin-1, which is expressed by keratinocytes, has paracrine effects on melanocytes, influencing their homeostasis, proliferation and pigmentation. It is thought to play a role in the skin response to 311-nm, narrow-band ultraviolet irradiation. OBJECTIVE: To investigate the association of endothelin-1 gene (EDN1) polymorphisms with vitiligo in a Korean population. METHODS: To evaluate the expression of endothelin-1 in cultured human keratinocytes after irradiation with narrow-band ultraviolet B (NBUVB), we performed RT-PCR and ELISA. In addition, we genotyped 312 vitiligo patients and 313 matched-healthy controls, and compared the genotype, allele and haplotype frequencies of EDN1 polymorphisms (intron 4 G/A, rs2071942 and exon 5 G/T, rs5370) between the two groups, using PCR-restriction fragment length polymorphism. The effects of sex, onset age, the presence of autoimmune diseases, family history and clinical type were analysed statistically. RESULTS: NBUVB induced the expression of endothelin-1 in cultured human keratinocytes. The genotype distributions and allele frequencies of EDN1 polymorphisms did not differ significantly between vitiligo patients and healthy controls. Moreover, the results were not related to sex, onset age, the presence of autoimmune diseases or family history. Interestingly, the haplotype frequencies of EDN1 polymorphisms differed significantly between vitiligo patients and healthy controls. When analysed according to clinical type, the haplotype frequencies in the focal and segmental clinical types differed significantly from healthy controls. CONCLUSION: This study suggests that EDN1 is related to the development of vitiligo in the Korean population.
Authors:
Hyun-Jin Kim; Chun-Pill Choi; Yoon Kyung Uhm; Young Il Kim; Jin-Woo Lee; Seo Hyun Yoon; Joo-Ho Chung; Mu-Hyoung Lee
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Experimental dermatology     Volume:  16     ISSN:  0906-6705     ISO Abbreviation:  Exp. Dermatol.     Publication Date:  2007 Jul 
Date Detail:
Created Date:  2007-06-19     Completed Date:  2007-08-31     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9301549     Medline TA:  Exp Dermatol     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  561-6     Citation Subset:  IM    
Affiliation:
Department of Dermatology, College of Medicine, Seoul, Korea.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Case-Control Studies
Cells, Cultured
Endothelin-1 / genetics*,  metabolism
Enzyme-Linked Immunosorbent Assay
Female
Gene Frequency
Genetic Predisposition to Disease
Genotype
Humans
Infant, Newborn
Keratinocytes / metabolism,  radiation effects*
Male
Middle Aged
Polymorphism, Single Nucleotide*
Reverse Transcriptase Polymerase Chain Reaction
Risk Factors
Skin / pathology
Ultraviolet Rays
Vitiligo / genetics*,  metabolism,  pathology
Chemical
Reg. No./Substance:
0/Endothelin-1

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