title: The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population.
abstract: Generalized vitiligo is an autoimmune disorder of the skin in which autoimmune-mediated destruction of melanocytes leads to depigmented patches of skin and overlying hair. The 1858C>T (R620W) functional polymorphism of the PTPN22 gene, which encodes lymphoid protein tyrosine phosphatase (Lyp), has been associated with susceptibility to a number of autoimmune disorders, including generalized vitiligo. The aim of this study was to test genetic association of the PTPN22 1858C>T variant and generalized vitiligo in a Romanian case-control cohort. We observed significant association of generalized vitiligo with the 1858T risk allele of PTPN22 [P = 0.0138; OR = 2.92 (1.21-7.03)], with significantly different distribution of PTPN22 1858C>T genotypes in cases versus controls [P = 0.036; OR = 2.69 (1.07-6.80)]. Our results provide evidence that the PTPN22 1858T allele contributes to risk of generalized vitiligo in European Caucasian populations, and underscores the importance of a genetically mediated autoimmune mechanism in the pathogenesis of vitiligo.
authors.affiliation: Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.
authors.forename: Greggory S
authors.initials: GS
authors.lastname: Laberge
authors.forename: Stanca A
authors.initials: SA
authors.lastname: Birlea
authors.forename: Pamela R
authors.initials: PR
authors.lastname: Fain
authors.forename: Richard A
authors.initials: RA
authors.lastname: Spritz
mesh_terms: D017668:Age of Onset; D001327:Autoimmune Diseases / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012015:Reference Standards; D012383:Romania / Q000453:epidemiology; D014820:Vitiligo / Q000453:epidemiology / Q000235:genetics*
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22