RGD Reference Report - Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients. - Rat Genome Database

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Mannose binding lectin and FcgammaRIIa (CD32) polymorphism in Spanish systemic lupus erythematosus patients.

Authors: Villarreal, J  Crosdale, D  Ollier, W  Hajeer, A  Thomson, W  Ordi, J  Balada, E  Villardell, M  Teh, LS  Poulton, K 
Citation: Villarreal J, etal., Rheumatology (Oxford). 2001 Sep;40(9):1009-12.
RGD ID: 5147979
Pubmed: PMID:11561111   (View Abstract at PubMed)

OBJECTIVE: Mannose binding lectin (MBL) and FcgammaRII (CD32) polymorphisms have both been implicated as candidate susceptibility genes in systemic lupus erythematosus (SLE). The aim of this study was to evaluate the relationship of these polymorphisms with SLE. METHODS: We studied a cohort of 125 SLE patients from Barcelona, Spain and 138 geographically matched controls. Sequence-specific primer-polymerase chain reaction (SSP-PCR) amplification was used to determine CD32 and MBL structural polymorphisms. MBL haplotypes were established using sequence-specific oligonucleotide probing techniques. RESULTS: Patients carried the MBL codon 54 mutant allele more frequently than controls [odds ratio (OR) 2.2; 95% confidence interval (CI) 1.2-4.0; P=0.007] and the haplotype HY W52 W54 W57 was found to be significantly lower in cases compared with controls (OR 0.6; 95% CI 0.4-0.9; P=0.016). CONCLUSION: The MBL gene codon 54 mutant allele appears to be a risk factor for SLE, whilst haplotypes encoding for high levels of MBL are protective against the disease. Differences between controls and patients were not significant when considering the FcgammaRIIa polymorphisms; similar results were observed for renal affectation.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumansystemic lupus erythematosus no_associationIAGP DNA:polymorphism:cds:p.H131R (human)RGD 
Fcgr2aRatsystemic lupus erythematosus no_associationISOFCGR2A (Homo sapiens)DNA:polymorphism: :p.H131R (human)RGD 
MBL2Humansystemic lupus erythematosus susceptibilityIAGP DNA:SNP more ...RGD 
Mbl2Ratsystemic lupus erythematosus susceptibilityISOMBL2 (Homo sapiens)DNA:SNP more ...RGD 
Mbl2Mousesystemic lupus erythematosus susceptibilityISOMBL2 (Homo sapiens)DNA:SNP more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fcgr2a  (Fc gamma receptor 2A)
Mbl2  (mannose binding lectin 2)

Genes (Mus musculus)
Mbl2  (mannose-binding lectin (protein C) 2)

Genes (Homo sapiens)
FCGR2A  (Fc gamma receptor IIa)
MBL2  (mannose binding lectin 2)

Additional Information