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rs872071

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal risk for chronic lymphocytic leukemia
(A;G) 1.5 ~1.5x increased risk for chronic lymphocytic leukemia
(G;G) 1.5 ~1.5x increased risk for chronic lymphocytic leukemia
ReferenceGRCh37 37.1/131
Chromosome6
Position411064
GeneIRF4
is asnp
is mentioned by
dbSNPrs872071
ClinGenrs872071
ebirs872071
HLIrs872071
Exacrs872071
Varsomers872071
Maprs872071
PheGenIrs872071
hapmaprs872071
1000 genomesrs872071
hgdprs872071
ensemblrs872071
gopubmedrs872071
geneviewrs872071
scholarrs872071
googlers872071
pharmgkbrs872071
gwascentralrs872071
openSNPrs872071
23andMers872071
23andMe allrs872071
SNP Nexus

SNPshotrs872071
SNPdbers872071
MSV3drs872071
GWAS Ctlgrs872071
GMAF0.3251
Max Magnitude1.5

rs872071 is a SNP associated with the interferon regulatory factor 4 IRF4 gene.

In a GWAS study including over 1,500 Caucasian patients with chronic lymphocytic leukemia (CLL), the rs872071(G) allele showed the strongest association (p = 1.91 x 10e-20) of all SNPs studied. The reported odds ratio was 1.54. See also: 23andMe blog A subsequent study ([PMID 20553269]) has found a similar association extending to another 800+ Spanish and Swedish CLL patients.

rs872071 was also seen to be associated with CLL in Hong Kong Chinese (71 patients), with a reported odds ratio of 1.78 (CI: 1.25-2.53).[PMID 20731705OA-icon.png]

A related hematologic malignancy, Hodgkin's lymphoma, may also be influenced by rs872071. Two case-control series totalling 529 and 2192 patients found an odds ratio of 1.21 (CI: 1.05-1.39, p = 0.009).[PMID 19804451]

? (A;A) (A;G) (G;G) 28
GWAS
SNP rs872071
PubMedID [PMID 18758461]
Condition Chronic lymphocytic leukemia
Gene IRF4
Risk Allele G
pValue 2.00E-020
OR 1.54
95% CI 1.41- 1.69


OMIM612558
DescLEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4
Variant
Relatedalso
OMIM601900
DescINTERFERON REGULATORY FACTOR 4; IRF4
Variant
Relatedalso
[PMID 19804451] IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma



[PMID 20602913OA-icon.png] IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma


[PMID 20855867] Inherited genetic susceptibility to monoclonal B-cell lymphocytosis


[PMID 19390683OA-icon.png] Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19620980OA-icon.png] Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.


[PMID 20585627OA-icon.png] Web-based, participant-driven studies yield novel genetic associations for common traits.

GWAS snp
PMID [PMID 22700719OA-icon.png]
Trait
Title Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
Risk Allele G
P-val 8E-14
Odds Ratio 1.4700 None


GET Evidence
rs872071
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.328125
summary



GWAS snp
PMID [PMID 23770605OA-icon.png]
Trait Chronic lymphocytic leukemia
Title Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
Risk Allele G
P-val 6E-20
Odds Ratio 1.33 [NR]


[PMID 23455380] Risk of genome-wide association study-identified genetic variants for non-Hodgkin lymphoma in a Chinese population.


[PMID 24906573OA-icon.png] Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and rs872071 with skin cancer and haematological malignancies susceptibility: a meta-analysis of 19 case-control studies

GWAS snp
PMID [PMID 24292274]
Trait Chronic lymphocytic leukemia
Title A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
Risk Allele G
P-val 3E-16
Odds Ratio 1.39 [NR]