| The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population. | |
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MedLine Citation:
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PMID: 17576235 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Experimental dermatology Volume: 16 ISSN: 0906-6705 ISO Abbreviation: Exp. Dermatol. Publication Date: 2007 Jul |
Date Detail:
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Created Date: 2007-06-19 Completed Date: 2007-08-31 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9301549 Medline TA: Exp Dermatol Country: Denmark |
Other Details:
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Languages: eng Pagination: 561-6 Citation Subset: IM |
Affiliation:
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Department of Dermatology, College of Medicine, Seoul, Korea. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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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:
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0/Endothelin-1 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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