{{Rsnum
|rsid=872071
|Gene=IRF4
|Chromosome=6
|position=411064
|Orientation=plus
|GMAF=0.3251
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
[[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: [http://blog.23andme.com/2008/08/31/snpwatch-researchers-find-first-snps-linked-to-common-type-of-leukemia/ 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|OA=1
}}

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}}

{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 24.8 | 48.7 | 26.5
| HCB | 53.3 | 38.7 | 8.0
| JPT | 52.7 | 42.0 | 5.4
| YRI | 100.0 | 0.0 | 0.0
| ASW | 68.4 | 26.3 | 5.3
| CHB | 53.3 | 38.7 | 8.0
| CHD | 43.5 | 44.4 | 12.0
| GIH | 29.7 | 51.5 | 18.8
| LWK | 98.2 | 1.8 | 0.0
| MEX | 25.9 | 58.6 | 15.5
| MKK | 76.9 | 21.8 | 1.3
| TSI | 26.7 | 53.5 | 19.8
| HapMapRevision=28
}}

{{GWAS Summary
|SNP=rs872071
|PubMedID=18758461
|Condition=Chronic lymphocytic leukemia
|Gene=IRF4
|Risk Allele=G
|pValue=2.00E-020
|OR=1.54
|95CI=1.41- 1.69
}}

{{omim
|desc=LEUKEMIA, CHRONIC LYMPHOCYTIC SUSCEPTIBILITY TO, 4
|id=612558
|rsnum=872071
}}

{{omim
|desc=INTERFERON REGULATORY FACTOR 4; IRF4
|id=601900
|rsnum=872071
}}
{{PMID Auto
|PMID=19804451
|Title=IRF4 polymorphism rs872071 and risk of Hodgkin lymphoma
}}

{{PharmGKB
|RSID=rs872071
|Name_s=
|Gene_s=IRF4
|Feature=
|Evidence=PubMed ID:18758461; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia (Initial Sample Size: 505 cases, 1,438 controls; Replication Sample Size: 1,024 cases, 1,677 controls; Risk Allele: rs872071-G). This variant is associated with Chronic lymphocytic leukemia.
|Drugs=
|Drug Classes=
|Diseases=Leukemia; Leukemia, Lymphocytic, Chronic, B-Cell
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356378
}}

{{PMID Auto
|PMID=20602913
|Title=IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma
|OA=1
}}

{{PMID Auto
|PMID=20855867
|Title=Inherited genetic susceptibility to monoclonal B-cell lymphocytosis
}}

{{PMID Auto
|PMID=19390683
|Title=Common gene variants in the tumor necrosis factor (TNF) and TNF receptor superfamilies and NF-kB transcription factors and non-Hodgkin lymphoma risk.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19620980
|Title=Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=20585627
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits.
|OA=1
}}

{{PMID Auto GWAS
|PMID=22700719
|Trait=None
|Title=Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.
|RiskAllele=G
|Pval=8E-14
|OR=1.4700
|ORtxt=None
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs872071
|overall_frequency_n=42
|overall_frequency_d=128
|overall_frequency=0.328125
|n_genomes=26
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23770605
  |Trait=Chronic lymphocytic leukemia
  |Title=Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
  |RiskAllele=G
  |Pval=6E-20
  |OR=1.33
  |ORtxt=[NR]
  |OA=1
}}

{{PMID Auto
|PMID=23455380
|Title=Risk of genome-wide association study-identified genetic variants for non-Hodgkin lymphoma in a Chinese population.
}}

{{PMID Auto
|PMID=24906573
|Title=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
}}

{{PMID Auto GWAS
  |PMID=24292274
  |Trait=Chronic lymphocytic leukemia
  |Title=A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
  |RiskAllele=G
  |Pval=3E-16
  |OR=1.39
  |ORtxt=[NR]
  }}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}