The association between endothelin-1 gene polymorphisms and susceptibility to vitiligo in a Korean population

Hyun Jin Kim, Chun Pill Choi, Yoon Kyung Uhm, Young Il Kim, Jin Woo Lee, Seo Hyun Yoon, Joo Ho Chung, Mu Hyoung Lee

Research output: Contribution to journalArticle

17 Scopus citations

Abstract

Bagkground: 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. Conclusionn: This study suggests that EDN1 is related to the development of vitiligo in the Korean population.

Original languageEnglish
Pages (from-to)561-566
Number of pages6
JournalExperimental Dermatology
Volume16
Issue number7
DOIs
StatePublished - 1 Jul 2007

Keywords

  • Endothelin-1
  • Haplotype
  • Polymorphism
  • Vitiligo

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