title: Polymorphism of the E-cadherin gene CDH1 is associated with susceptibility to vitiligo.
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.
authors.affiliation: Department of Dermatology, Santa Casa de Misericórdia de Curitiba Hospital, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.
authors.forename: Roberto Gomes
authors.initials: RG
authors.lastname: Tarlé
authors.forename: Caio Cesar
authors.initials: CC
authors.lastname: Silva de Castro
authors.forename: Liliane Machado
authors.initials: LM
authors.lastname: do Nascimento
authors.forename: Marcelo Távora
authors.initials: MT
authors.lastname: Mira
mesh_terms: D015703:Antigens, CD; D001327:Autoimmune Diseases / Q000453:epidemiology; D015820:Cadherins / Q000235:genetics* / Q000276:immunology; D002448:Cell Adhesion / Q000235:genetics; D015897:Comorbidity; D000070819:Discoidin Domain Receptor 1; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D053583:Interleukin-1beta / Q000235:genetics; D008297:Male; D008544:Melanocytes / Q000276:immunology; D055514:Nephroblastoma Overexpressed Protein / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D014820:Vitiligo / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C526319:CCN3 protein, human; C513384:CDH1 protein, human; D015820:Cadherins; C508585:IL1B protein, human; D053583:Interleukin-1beta; D055514:Nephroblastoma Overexpressed Protein; C092030:DDR1 protein, human; D000070819:Discoidin Domain Receptor 1; D020794:Receptor Protein-Tyrosine Kinases
keywords: CDH1; cadherins; cell adhesion; genetic association studies; vitiligo