Ball SG

Donaldson PT

Herington S

James RA

Jennings CE

Owen CJ

Pearce SHS

Perros P

Quinton R

Velaga MR

Wilson V

The lymphoid tyrosine phosphatase (LYP), encoded by the protein tyrosine phosphatase-22 (PTPN22) gene, is a powerful inhibitor of T cell activation. Recently, a single nucleotide polymorphism (SNP), encoding a functional arginine to tryptophan residue change at LYP codon 620 has been shown to be associated with type 1 diabetes and other autoimmune disorders. We have used a PCR-restriction fragment (XcmI) assay to examine genotypes at the codon 620 polymorphism in 549 unrelated probands with Graves\u27 disease, 104 unrelated subjects with autoimmune Addison\u27s disease and 429 controls. The T nucleotide at the SNP, encoding the tryptophan 620 residue, was present in 151 of 1098 (13.8%) Graves\u27 disease alleles compared to 67 of 858 (7.8%) control alleles (chi(2)=17.2, p=3.4x10(-5); odds ration=1.99, 5-95% confidence intervals [CI] 1.39 to 2.55). Similarly, the T nucleotide at the codon 620 SNP was present in 26 of 208 (12.5%) Addison\u27s disease alleles vs 7.8% of controls (chi(2)=4.63, p=0.031; odds ratio=1.69, 5-95% CI 1.04 to 2.73). These data suggest that this LYP polymorphism is a susceptibility allele for Graves\u27 disease with a major effect, and which is likely to have a role in many other autoimmune conditions

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The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves\u27 disease

The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves\u27 disease

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