title: The Evaluation of Endothelin-1 and Endothelin Receptor Type A Gene Polymorphisms in Patients with Vitiligo.
abstract: BACKGROUND
  Endothelin-1 (EDN1) and EDN receptor type A (EDNRA) are implicated in melanocyte functions.
  
  
  OBJECTIVE
  This study examines the role of EDN1 (G5665T and T-1370G) and EDNRA (C + 70G and G-231A) polymorphisms as a risk factor for vitiligo, and evaluates the relationship between genotypes and clinical characteristics of vitiligo patients.
  
  
  METHODS
  We analyzed genotype/allele distributions of EDN1 and EDNRA polymorphisms in 100 patients with vitiligo and 185 healthy controls by real-time polymerase chain reaction.
  
  
  RESULTS
  There was no notable risk for vitiligo afflicted by studied polymorphisms. However, the presence of EDNRA +70 variant G allele was found to be related with decreased risk for development of generalized type of vitiligo (odds ratio [OR]: 0.42, 95% confidence interval [CI] = 0.21-0.86, pcorr = 0.03) and showed protective effect against associated diseases seen in vitiligo (OR: 0.49, 95% CI = 0.27-0.88, pcorr = 0.034). Haplotype analysis demonstrated a strong (disequilibrium coefficient = 0.73, r (2) = 0.405) linkage disequilibrium between EDN1 G5665T and T-1370G polymorphisms. The EDN1 5665/-1330 TT haplotype was over represented significantly in controls than in patients (P = 0.04).
  
  
  CONCLUSIONS
  The studied polymorphisms do not seem to be a major risk for vitiligo. Haplotype analysis denoting protective effects against vitiligo may indicate an indirect interaction in the course of vitiligo. In addition, EDNRA + 70 polymorphism is protective against generalized type of vitiligo and associated diseases.
authors.affiliation: Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: İlknur
authors.initials: İ
authors.lastname: Bingül
authors.affiliation: Department of Dermatology, Acıbadem University, School of Medicine, Istanbul, Turkey.
authors.forename: İkbal Esen
authors.initials: İE
authors.lastname: Aydıngöz
authors.affiliation: Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Pervin
authors.initials: P
authors.lastname: Vural
authors.affiliation: Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Semra
authors.initials: S
authors.lastname: Doğru-Abbasoğlu
authors.affiliation: Department of Biochemistry, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Müjdat
authors.initials: M
authors.lastname: Uysal
keywords: Endothelin-1; endothelin receptor A; genetic polymorphism; inflammation; vitiligo