Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant.
Nat Genet
; 37(12): 1317-9, 2005 Dec.
Article
em En
| MEDLINE
| ID: mdl-16273109
ABSTRACT
A SNP in the gene PTPN22 is associated with type 1 diabetes, rheumatoid arthritis, lupus, Graves thyroiditis, Addison disease and other autoimmune disorders. T cells from carriers of the predisposing allele produce less interleukin-2 upon TCR stimulation, and the encoded phosphatase has higher catalytic activity and is a more potent negative regulator of T lymphocyte activation. We conclude that the autoimmune-predisposing allele is a gain-of-function mutant.
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Base de dados:
MEDLINE
Assunto principal:
Doenças Autoimunes
/
Linfócitos T
/
Proteínas Tirosina Fosfatases
/
Polimorfismo de Nucleotídeo Único
/
Diabetes Mellitus Tipo 1
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article