rs872071
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh37 37.1/131 |
| Chromosome | 6 |
| Position | 411064 |
| Gene | IRF4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs872071 |
| dbSNP (classic) | rs872071 |
| ClinGen | rs872071 |
| ebi | rs872071 |
| HLI | rs872071 |
| Exac | rs872071 |
| Gnomad | rs872071 |
| Varsome | rs872071 |
| LitVar | rs872071 |
| Map | rs872071 |
| PheGenI | rs872071 |
| Biobank | rs872071 |
| 1000 genomes | rs872071 |
| hgdp | rs872071 |
| ensembl | rs872071 |
| geneview | rs872071 |
| scholar | rs872071 |
| rs872071 | |
| pharmgkb | rs872071 |
| gwascentral | rs872071 |
| openSNP | rs872071 |
| 23andMe | rs872071 |
| SNPshot | rs872071 |
| SNPdbe | rs872071 |
| MSV3d | rs872071 |
| GWAS Ctlg | rs872071 |
| GMAF | 0.3251 |
| Max Magnitude | 1.5 |
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 20731705
]
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 |
[PMID 19804451] IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma
[PMID 20602913] IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma
[PMID 20855867] Inherited genetic susceptibility to monoclonal B-cell lymphocytosis
[PMID 19390683] Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19620980] Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.
[PMID 20585627] Web-based, participant-driven studies yield novel genetic associations for common traits.
| GWAS snp | |
|---|---|
| PMID | [PMID 22700719]
|
| 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 |
| GWAS snp | |
|---|---|
| PMID | [PMID 23770605]
|
| 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 24906573] 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] |
