RGD Reference Report - Common variants in genes that mediate immunity and risk of multiple myeloma. - Rat Genome Database

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Common variants in genes that mediate immunity and risk of multiple myeloma.

Authors: Brown, EE  Lan, Q  Zheng, T  Zhang, Y  Wang, SS  Hoar-Zahm, S  Chanock, SJ  Rothman, N  Baris, D 
Citation: Brown EE, etal., Int J Cancer. 2007 Jun 15;120(12):2715-22.
RGD ID: 11040938
Pubmed: PMID:17315188   (View Abstract at PubMed)
DOI: DOI:10.1002/ijc.22618   (Journal Full-text)

Multiple myeloma (MM) is a B-cell malignancy characterized by aberrant immune function. Using genomic DNA extracted from 127 MM cases aged 21-84 years and 545 population-based controls, we examined the risk of MM associated with 82 common variants in 45 genes that mediate immunity among women of European American descent. Genotyping was determined using validated and optimized TaqMan assays. We estimated haplotype frequencies from unphased genotype data for 20 of these genes using the expectation-maximization progressive insertion algorithm. Compared with controls, MM risk was positively associated with homozygotes of single loci, IL4R (-28120T, rs2107356) and FCGR2A (-120G, rs1801274) (OR = 1.91, 95% CI 1.08-3.38 and 1.95, 95% CI 1.06-3.60, respectively). For genes in which linkage disequilibrium was observed between multiple loci, MM risk was positively associated with the haplotype block covering part of the LTA*TNF complex (LTA -82C/-90G *TNF -1036C/-487G/-417G, OR = 1.63, 95% CI 1.02-2.16) compared with the most frequently occurring haplotype observed among controls (LTA -82A/-90A *TNF -1036C/-487G/-417G). Our findings provide preliminary evidence that common genetic variants in specific immune-mediated pathways could influence the risk of MM.

RGD Manual Disease Annotations    Click to see Annotation Detail View

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FCGR2AHumanmultiple myeloma susceptibilityIAGP DNA:polymorphism: :rs1801274(human)RGD 
Fcgr2aRatmultiple myeloma susceptibilityISOFCGR2A (Homo sapiens)DNA:polymorphism: :rs1801274(human)RGD 
Fcgr3Mousemultiple myeloma susceptibilityISOFCGR2A (Homo sapiens)DNA:polymorphism: :rs1801274(human)RGD 
IL4RHumanmultiple myeloma susceptibilityIAGP DNA:SNP: :-228120T>C(rs2107356)(human) RGD 
Il4rRatmultiple myeloma susceptibilityISOIL4R (Homo sapiens)DNA:SNP: :-228120T>C(rs2107356)(human) RGD 
Il4raMousemultiple myeloma susceptibilityISOIL4R (Homo sapiens)DNA:SNP: :-228120T>C(rs2107356)(human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fcgr2a  (Fc gamma receptor 2A)
Il4r  (interleukin 4 receptor)

Genes (Mus musculus)
Fcgr3  (Fc receptor, IgG, low affinity III)
Il4ra  (interleukin 4 receptor, alpha)

Genes (Homo sapiens)
FCGR2A  (Fc gamma receptor IIa)
IL4R  (interleukin 4 receptor)

Additional Information