RGD Reference Report - Immunoregulatory cytokines gene polymorphisms in Egyptian patients affected with acquired aplastic anemia. - 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

Immunoregulatory cytokines gene polymorphisms in Egyptian patients affected with acquired aplastic anemia.

Authors: El Mahgoub, IR  Afify, RA  Botros, SK  Fawzy, R 
Citation: El Mahgoub IR, etal., Ann Hematol. 2014 Jun;93(6):923-9. doi: 10.1007/s00277-013-1992-x. Epub 2013 Dec 21.
RGD ID: 11073601
Pubmed: PMID:24362456   (View Abstract at PubMed)
DOI: DOI:10.1007/s00277-013-1992-x   (Journal Full-text)

The immune system is thought to play an important role in aplastic anemia (AA) in light of recent findings of hematologic reconstitution after immunosuppressive therapy. T cell activation, apoptosis, and the cytokines interferon- and TNF-alpha are suspected to play a role in the suppression of growth of progenitor cells and induced apoptosis in CD34 target cells, TGFbeta is a multifunctional peptide, usually produced in latent form and requiring activation to produce a biological response. Also, TGF-beta1 has been described as an important negative regulator of haemopoiesis. Over production of IL-6 is described in AA but is of unknown pathophysiological significance. To investigate the role of cytokine gene polymorphisms (IL-6/-174, TNF-alpha/-308, IFN-gamma/+874, and TGFbeta1/-509) in patients with acquired AA to assess if genotypes associated with higher or lower production were more prevalent than in established control population and to study the possible association of these genotypes with the disease severity. Fifty AA patients were included in this study. Polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) technique was used to detect INF-gamma single nucleotide polymorphism -874A/T, and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to assess IL-6-174 C/G, TNF-alpha-308G/A, and TGFb1-509C/T gene polymorphisms. Genotypes associated with high production of TNF-alpha, TGF-beta and IFN-gamma, and IL-6 were more frequent in patients than in control; no association was found between the presence of hypersecretory genotypes and the disease severity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
aplastic anemia susceptibilityIAGP 11073601DNA:polymorphism: :509C>T(human)RGD 
aplastic anemia susceptibilityISOTGFB1 (Homo sapiens)11073601; 11073601DNA:polymorphism: :509C>T(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tgfb1  (transforming growth factor, beta 1)

Genes (Mus musculus)
Tgfb1  (transforming growth factor, beta 1)

Genes (Homo sapiens)
TGFB1  (transforming growth factor beta 1)


Additional Information