Polymorphism of the E-cadherin gene CDH1 is associated with susceptibility to vitiligo

Exp Dermatol. 2015 Apr;24(4):300-2. doi: 10.1111/exd.12641.

Abstract

Vitiligo is a depigmenting disorder characterized by loss of functional melanocytes from the epidermis. Experimental data suggest that defective melanocyte adhesion may underlie the pathogenesis of the disease. In particular, association between vitiligo and genetic variants of the DDR1 gene involved in melanocyte adhesion has been recently published. A subsequent, independent study revealed lower expression of DDR1 in vitiligo lesions. Here, we expand this investigation by testing for association between vitiligo and polymorphisms of CDH1, IL1B and NOV (formerly CCN3), genes belonging to the DDR1 adhesion pathway, in two population samples of distinct design. Our results reveal that alleles of marker rs10431924 of the CDH1 gene are associated with vitiligo, especially in the presence of autoimmune comorbidities.

Keywords: CDH1; cadherins; cell adhesion; genetic association studies; vitiligo.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD
  • Autoimmune Diseases / epidemiology
  • Cadherins / genetics*
  • Cadherins / immunology
  • Cell Adhesion / genetics
  • Comorbidity
  • Discoidin Domain Receptor 1
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Interleukin-1beta / genetics
  • Male
  • Melanocytes / immunology
  • Nephroblastoma Overexpressed Protein / genetics
  • Polymorphism, Single Nucleotide
  • Receptor Protein-Tyrosine Kinases / genetics
  • Vitiligo / epidemiology
  • Vitiligo / etiology
  • Vitiligo / genetics*

Substances

  • Antigens, CD
  • CCN3 protein, human
  • CDH1 protein, human
  • Cadherins
  • IL1B protein, human
  • Interleukin-1beta
  • Nephroblastoma Overexpressed Protein
  • DDR1 protein, human
  • Discoidin Domain Receptor 1
  • Receptor Protein-Tyrosine Kinases