The Codon 620 Single Nucleotide Polymorphism of the Protein Tyrosine Phosphatase-22 Gene Does not Contribute to Autoimmune Thyroid Disease Susceptibility in the Japanese
The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD), and Hashimoto's thyroiditis (HT) is largely unknown. However, genetic susceptibility is believed to play a major role. The lymphoid tyrosine phosphatase (LYP), encoded by the protein tyrosine phosphatase-22 ( PT...
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Veröffentlicht in: | Thyroid (New York, N.Y.) N.Y.), 2005-10, Vol.15 (10), p.1115-1118 |
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Zusammenfassung: | The etiology of the autoimmune thyroid diseases (AITDs), Graves' disease (GD), and Hashimoto's thyroiditis
(HT) is largely unknown. However, genetic susceptibility is believed to play a major role. 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
PTPN22
codon 620 in Caucasians has been shown to be associated with GD and
other autoimmune diseases. We have used a polymerase chain reaction (PCR)-restriction fragment (
XcmI
) assay
to examine genotypes at the codon 620 polymorphism in 334 unrelated patients with AITD and 179 controls.
None of the patients with AITD and controls had the tryptophan allele. These data suggest that the codon
620 polymorphism of the
PTPN22
gene does not have a causal role for AITD in the Japanese. However, we
cannot exclude the
PTPN22
region as harboring another susceptibility locus for AITD in linkage disequilibrium
with the Trp/Arg SNP. |
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ISSN: | 1050-7256 1557-9077 |
DOI: | 10.1089/thy.2005.15.1115 |