RGD Reference Report - No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations. - Rat Genome Database

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No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations.

Authors: Zhang, Q  Hou, S  Jiang, Z  Du, L  Li, F  Xiao, X  Kijlstra, A  Yang, P 
Citation: Zhang Q, etal., PLoS One. 2012;7(3):e31230. doi: 10.1371/journal.pone.0031230. Epub 2012 Mar 2.
RGD ID: 7829745
Pubmed: PMID:22396730   (View Abstract at PubMed)
PMCID: PMC3292549   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0031230   (Journal Full-text)

BACKGROUND: Behcet's disease is known as a recurrent, multisystem inflammation and immune-related disease. Protein tyrosine phosphatase non-receptor 22 (PTPN22) is a key negative regulator of T lymphocytes and polymorphisms of the PTPN22 gene have been shown to be associated with various immune-related diseases. The present study was performed to assess the association between PTPN22 polymorphisms and Behcet's disease in two Chinese Han populations. METHODOLOGY/PRINCIPAL FINDINGS: A total of 516 patients with ocular Behcet's disease and 690 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method for three single nucleotide polymorphisms (SNPs). Hardy-Weinberg equilibrium was tested using the chi(2) test. Genotype frequencies were estimated through direct counting. Allele and genotype frequencies were compared between patients and controls using logistic regression analysis. The results revealed that there was no association between the tested three PTPN22 SNPs (rs2488457, rs1310182 and rs3789604) and ocular Behcet's disease (p>0.05). Categorization analysis according to the clinical features did not show any association of these three polymorphisms with these parameters (p>0.05). CONCLUSIONS/SIGNIFICANCE: The investigated PTPN22 gene polymorphisms (rs2488457, rs1310182 and rs3789604) were not associated with ocular Behcet's disease in two Chinese Han populations, and showed that it may be different from other classical autoimmune diseases. More studies are needed to confirm these findings for Behcet's disease in other ethnic backgrounds.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Behcet's disease no_associationIAGP 7829745DNA:SNPs: :rs2488457 more ...RGD 
Behcet's disease no_associationISOPTPN22 (Homo sapiens)7829745; 7829745DNA:SNPs: :rs2488457 more ...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