RGD Reference Report - Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population. - Rat Genome Database

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Association of PTPN22 1858T/T genotype with type 1 diabetes, Graves' disease but not with rheumatoid arthritis in Russian population.

Authors: Zhebrun, D  Kudryashova, Y  Babenko, A  Maslyansky, A  Kunitskaya, N  Popcova, D  Klushina, A  Grineva, E  Kostareva, A  Shlyakhto, E 
Citation: Zhebrun D, etal., Aging (Albany NY). 2011 Apr;3(4):368-73.
RGD ID: 7829746
Pubmed: PMID:21467606   (View Abstract at PubMed)
PMCID: PMC3117451   (View Article at PubMed Central)
DOI: DOI:10.18632/aging.100305   (Journal Full-text)

The protein tyrosine phosphatase nonreceptor 22 gene (PTPN22) is an important negative regulator of signal transduction through the T-cell receptors (TCR). Recently a single-nucleotide polymorphism (SNP) 1858 C/T within this gene was shown to be a risk factor for several autoimmune diseases, such as rheumatoid arthritis (RA), Graves' Disease (GD), systemic lupus erythematosus (SLE), Wegener's granulomatosis (WG) and type 1 diabetes mellitus (T1D). The aim of this study was to analyze a possible association between 1858 C/T SNP and a number of autoimmune diseases, including RA, GD and T1D in Russian population. Patients with T1D, GD, RA and healthy controls were genotyped for the 1858 C/T SNP in PTPN22 gene. We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 1858T/T genotype was observed more frequently in T1D and GD patients compared to control subjects. No such association was observed for RA. In concordance with a previous data establishing PTPN22 1858 C/T SNP association with several autoimmune diseases, our findings provide further evidence that the PTPN22 gene may play an important role in the susceptibility to some autoimmune diseases.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
rheumatoid arthritis no_associationIAGP 7829746DNA:SNP::1858C>T (human)RGD 
rheumatoid arthritis no_associationISOPTPN22 (Homo sapiens)7829746; 7829746DNA:SNP::1858C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22)

Genes (Mus musculus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

Genes (Homo sapiens)
PTPN22  (protein tyrosine phosphatase non-receptor type 22)


Additional Information