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The PTPN22 ‐1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population
Author(s) -
LaBerge Greggory S.,
Birlea Stanca A.,
Fain Pamela R.,
Spritz Richard A.
Publication year - 2008
Publication title -
pigment cell and melanoma research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.618
H-Index - 105
eISSN - 1755-148X
pISSN - 1755-1471
DOI - 10.1111/j.1755-148x.2008.00443.x
Subject(s) - vitiligo , ptpn22 , romanian , polymorphism (computer science) , genetics , population , biology , medicine , genotype , single nucleotide polymorphism , gene , philosophy , environmental health , linguistics
Summary 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.