RGD Reference Report - Fc gamma RIIa polymorphism: a susceptibility factor for immune complex-mediated lupus nephritis in Brazilian patients. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Fc gamma RIIa polymorphism: a susceptibility factor for immune complex-mediated lupus nephritis in Brazilian patients.

Authors: Bazilio, AP  Viana, VS  Toledo, R  Woronik, V  Bonfa, E  Monteiro, RC 
Citation: Bazilio AP, etal., Nephrol Dial Transplant. 2004 Jun;19(6):1427-31. Epub 2004 Mar 5.
RGD ID: 5147975
Pubmed: PMID:15004265   (View Abstract at PubMed)
DOI: DOI:10.1093/ndt/gfh121   (Journal Full-text)

BACKGROUND: Fc gamma RIIa is a low affinity receptor that has two co-dominantly expressed alleles, R131 and H131, which differ in their ability to bind immunoglobulin G (IgG) subclasses. Cells expressing H131 bind more efficiently complexed IgG2 and IgG3 than those expressing the R131 variant. The Fc gamma RIIa polymorphism has been shown to be associated with lupus nephritis. Here we evaluated the relevance of Fc gamma RIIa gene polymorphism in the development of lupus immune complex (IC)-mediated nephritis by comparing the genotype and allelic distribution of this receptor in lupus nephritis to ethnically matched healthy controls in Brazilians. METHODS: 119 systemic lupus erythematosus (SLE) patients and 48 healthy volunteers were recruited. Fc gamma RIIa genotyping was performed by PCR with allele-specific primers to distinguish between the two allelic forms (H131 and R131). RESULTS: Comparison of Fc gamma RIIa genotypes distribution in SLE patients with nephritis and in controls showed a significant increase in Fc gamma RIIa-R131 homozygosity (P < or = 0.02). The genotype distribution in lupus nephritis (45% with Fc gamma RIIa-R/R131, 30% with H/R131 and 25% with H/H131) was distinct from that observed in controls (21% with Fc gamma RIIa-R/R131, 52% with H/R131 and 27% with H/H131). In contrast, there was no difference in the distribution of Fc gamma RIIa genotypes in lupus without nephritis and controls (P = 0.3). Reinforcing the relevance of Fc gamma RIIa polymorphism in IC-mediated nephritis, patients with renal failure had an over-representation of the R131 allele (70%) when compared with normal controls (47%) (P = 0.06). CONCLUSIONS: The skewed distribution of Fc gamma RIIa genotypes with the predominance of homozygous R/R131 genotype observed in lupus nephritis emphasizes its importance as a heritable risk factor for IC-mediated renal injury in Brazilian lupus patients.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumanlupus nephritis  IAGP DNA:missense mutation:cds:p.H131R (human)RGD 
Fcgr2aRatlupus nephritis  ISOFCGR2A (Homo sapiens)DNA:missense mutation:cds:p.H131R (human)RGD 
Fcgr3Mouselupus nephritis  ISOFCGR2A (Homo sapiens)DNA:missense mutation:cds:p.H131R (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
TNFRSF1BHumanCellular urinary casts  IAGP DNA:polymorphism:cds:p.H131RRGD 
FCGR2AHumanGlomerulonephritis  IAGP DNA:missense mutation:cds:p.H131RRGD 
TNFRSF1BHumanProteinuria  IAGP DNA:polymorphism:cds:p.H131RRGD 
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)
TNFRSF1B  (TNF receptor superfamily member 1B)


Additional Information