RGD Reference Report - FcgammaRIIa and FcgammaRIIIa polymorphisms in childhood primary immune thrombocytopenia: implications for disease pathogenesis and outcome. - Rat Genome Database

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FcgammaRIIa and FcgammaRIIIa polymorphisms in childhood primary immune thrombocytopenia: implications for disease pathogenesis and outcome.

Authors: Papagianni, A  Economou, M  Tragiannidis, A  Karatza, E  Samarah, F  Gombakis, N  Athanassiadou-Piperopoulou, F  Vavatsi-Christaki, N  Athanassiou-Metaxa, M 
Citation: Papagianni A, etal., Blood Coagul Fibrinolysis. 2013 Jan;24(1):35-9. doi: 10.1097/MBC.0b013e328359bc3b.
RGD ID: 11040990
Pubmed: PMID:23249566   (View Abstract at PubMed)
DOI: DOI:10.1097/MBC.0b013e328359bc3b   (Journal Full-text)

Primary immune thrombocytopenia (ITP) is the commonest acquired cause of bleeding in childhood. The aim of the present study was to evaluate the role of FcgammaRIIa and FcgammaRIIIa polymorphisms in the pathogenesis and therapeutic result of childhood ITP. The genotypic frequencies for two Fcgamma receptor single-nucleotide polymorphisms, FcgammaRIIa-131 arginine (R) versus histidine (H) and FcgammaRIIIa-158 valine (V) versus phenylalanine (F) were examined in 53 children diagnosed with ITP. The genotype frequencies were compared with those of 45 healthy controls. The association between the above frequencies and disease natural course as well as therapeutic result following intravenous immunoglobulin (IVIG) administration was investigated. FcgammaRIIIa-158V was significantly overrepresented in children with ITP versus controls (P = 0.029), whereas no statistically significant difference was noted in FcgammaRIIa polymorphism distribution. No statistically significant difference was noted in the above genotype frequencies' distribution between children with newly diagnosed and chronic ITP, as well as with regards to the therapeutic result following IVIG administration. High-affinity FcgammaRIIIa variant (158 V) is possibly implicated in disease susceptibility, but neither of the two Fcgamma receptor single-nucleotide polymorphisms seem to have any impact on chronicity or therapeutic effect of IVIG.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumanautoimmune thrombocytopenic purpura no_associationIAGP DNA:SNP:cds:p.R131H (human)RGD 
Fcgr2aRatautoimmune thrombocytopenic purpura no_associationISOFCGR2A (Homo sapiens)DNA:SNP:cds:p.R131H (human)RGD 
Fcgr3Mouseautoimmune thrombocytopenic purpura no_associationISOFCGR2A (Homo sapiens)DNA:SNP:cds:p.R131H (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fcgr2a  (Fc gamma receptor 2A)

Genes (Mus musculus)
Fcgr3  (Fc receptor, IgG, low affinity III)

Genes (Homo sapiens)
FCGR2A  (Fc gamma receptor IIa)


Additional Information