Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.

Autores de IIS La Fe

• Alicia Marquez Granados

  Autor

• Llorenç Font Ferre

  Autor

• David Salom Alonso

  Autor

Participantes ajenos a IIS La Fe

• Cénit MC
• Cordero-Coma M
• Fonollosa A
• Artaraz J
• Díaz Valle D
• Blanco R
• Cañal J
• García Serrano JL
• de Ramón E
• José del Rio M
• Gorroño-Echebarría MB
• Martín-Villa JM
• Molins B
• Ortego-Centeno N
• Martín J

Grupos

• 

  Biomedicina Molecular, Celular y Genómica

Abstract

Endogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders. We aimed to analyze for the first time the influence of these PTPN22 genetic variants on endogenous non-anterior uveitis susceptibility.