RGD Reference Report - [Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD]. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

[Association of polymorphism of protein tyrosine phosphatase nonreceptor-22 gene with AITD].

Authors: Yu, ZY  Zhang, JA  Maier, HB  Wang, Y  Xiao, WX  Quan, Y  Dong, BN 
Citation: Yu ZY, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2008 Aug;24(8):804-7.
RGD ID: 7829738
Pubmed: PMID:18687223   (View Abstract at PubMed)

AIM: To evaluate the association of PTPN22 gene polymorphism with autoimmune thyroid disease (AITD) in Chinese people and to analyze the relationship between SNP of CTLA-4 gene and SNP of PTPN22 gene. METHODS: 149 patients with Graves' disease (GD) and 82 patients with Hashimoto's thyroiditis (HT) as well as 131 healthy people as controls were investigated. PTPN22 gene polymorphism +1858 C>T and CTLA-4 gene polymorphism 49A>G were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). PTPN22 gene polymorphism -1123G>C at promoter was genotyped by single allele-specific primer polymerase chain reaction (SASP-PCR). RESULTS: (1) +1858C>T for PTPN22 gene was not polymorphic enough in patients and controls. (2) Statistic differences in alleles and genotype frequency of -1123G>C were observed between GD patients and controls (P=0.040, 0.013; OR=1.44, 2.33, respectively). (3) Differences in alleles and genotype frequency of 49A>G for CTLA-4 gene were observed in patients and controls. (4) Individuals with PTPN22 CC genotype and CTILA-4 G alleles had an increased risk of developing GD (OR=3.31, 95%CI: 2.69-8.89) compared with those with PTPN22 G alleles and CTLA-4 AA genotype. CONCLUSION: -1123 G>C SNP of PTPN22 gene is associated with GD. There is coordination between PTPN22 CC genotype and CTLA-4 G alleles in the development of GD.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PTPN22HumanGraves' disease  IAGP DNA:SNP and haplotype:promoter:-1123G>C (human)RGD 
Ptpn22RatGraves' disease  ISOPTPN22 (Homo sapiens)DNA:SNP and haplotype:promoter:-1123G>C (human)RGD 
Ptpn22MouseGraves' disease  ISOPTPN22 (Homo sapiens)DNA:SNP and haplotype:promoter:-1123G>C (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