{{Rsnum
|rsid=6822844
|Chromosome=4
|position=122588266
|Orientation=plus
|GMAF=0.06749
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 72.6 | 25.7 | 1.8
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 98.0 | 2.0 | 0.0
| ASW | 94.7 | 5.3 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 89.1 | 10.9 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 94.8 | 5.2 | 0.0
| MKK | 97.4 | 2.6 | 0.0
| TSI | 77.5 | 18.6 | 3.9
| HapMapRevision=28
}}{{PMID|17999365|OA=1
}} association with [[rheumatoid arthritis]] and [[type-1 diabetes]] point to a general risk locus for autoimmune diseases.

Also, of SNPs outside the HLA region, this SNP and one other ([[rs13119723]]) in the region of the [[IL21]] gene showed the strongest association with [[celiac disease]] in a study of ~800 Caucasian patients and a meta-analysis of two further populations.{{PMID|17558408|OA=1
}}

{{GWAS Summary
|SNP=rs6822844
|PubMedID=17558408
|Condition=Celiac disease
|Gene=KIA1109,TENR,IL2,IL21
|Risk Allele=G
|pValue=1.00E-014
|OR=1.59
|95CI=1.41-1.75
|OA=1
}}
{{PMID Auto
|PMID=19302705
|Title=Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.
|OA=1
}}

{{PMID Auto GWAS
|PMID=18311140
|Trait=Celiac disease
|Title=Newly identified genetic risk variants for celiac disease related to the immune response
|RiskAllele=C
|Pval=2.9999999999999998E-13
|OR=1.44
|ORtxt=[1.30-1.58]
|OA=1
}}
{{PMID Auto
|PMID=19455118
|Title=Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease
}}
{{PMID Auto
|PMID=19471255
|Title=Novel Association of the Interleukin 2-Interleukin 21 Region With Inflammatory Bowel Disease
}}
{{PMID Auto
|PMID=19201773
|Title=Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis
|OA=1
}}

{{PMID Auto
|PMID=19404967
|Title=Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis
}}

{{omim
|desc=CELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
|id=611598
|rsnum=6822844
}}

{{omim
|desc=KIAA1109 GENE; KIAA1109
|id=611565
|rsnum=6822844
}}

{{PharmGKB
|RSID=rs6822844
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17558408; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21 (Initial Sample Size: 778 cases, 1,422 controls; Replication Sample Size: 991 cases, 1,489 controls; Risk Allele: rs6822844-G).
|Drugs=
|Drug Classes=
|Diseases=Celiac Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356663
}}

{{PMID Auto
|PMID=20184734
|Title=The 4q27 locus and familial prostate cancer risk
|OA=1
}}

{{PMID Auto
|PMID=20553587
|Title=Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: Confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance
|OA=1
}}

{{PharmGKB
|RSID=rs6822844
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17999365
|Annotation=This SNP was shown to be associated with Type I Diabetes and with Rheumatoid Arthritis in a Dutch population. There was a decreased frequency of the T allele in cases compared to controls.
|Drugs=
|Drug Classes=
|Diseases=Arthritis, Rheumatoid; Diabetes Mellitus, Type 1
|Curation Level=Curated
|PharmGKB Accession ID=PA162167935
}}

{{omim
|id=601454
|rsnum=6822844
}}

{{PMID Auto
|PMID=22130325
|Title=IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis
}}

{{PMID Auto
|PMID=22087237
|Title=Improving the estimation of celiac disease sibling risk by non-HLA genes
|OA=1
}}

{{PMID Auto
|PMID=21269573
|Title=Role of the rs6822844 gene polymorphism at the IL2-IL21 region in biopsy-proven giant cell arteritis.
}}

{{PMID|18369459|OA=1
}} A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease loci.

{{PMID|18418394}} Association study of IL2/IL21 and FcgRIIa: significant association with the IL2/IL21 region in Scandinavian coeliac disease families.

{{PMID|18713140|OA=1
}} Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

{{PMID|18794853|OA=1
}} Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

{{PMID|18853133|OA=1
}} Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

{{PMID|19073967|OA=1
}} Shared and distinct genetic variants in type 1 diabetes and celiac disease.

{{PMID|19176549|OA=1
}} Genome-wide association analysis by lasso penalized logistic regression.

{{PMID|19180477|OA=1
}} Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

{{PMID|19248117}} Association of the autoimmunity locus 4q27 with juvenile idiopathic arthritis.

{{PMID|19359276|OA=1
}} Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

{{PMID|19468064|OA=1
}} Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

{{PMID|19523143}} Multiple sclerosis association study with the TENR-IL2-IL21 region in a Spanish population.

{{PMID|19546505|OA=1
}} IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).

{{PMID|20072139|OA=1
}} Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.

{{PMID|20112382|OA=1
}} Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus.

{{PMID|20179739|OA=1
}} Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.

{{PMID|20444755|OA=1
}} Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.

{{PMID|20445516}} Consolidation of evidence for association of the KIAA1109-TENR-IL2-IL21 rs6822844 variant with Crohn's disease.

{{PMID|21304239}} Analysis of IL2/IL21 gene variants in cholestatic liver diseases reveals an association with primary sclerosing cholangitis.

{{PMID|21375519}} A systematic investigation of confirmed autoimmune loci in early-onset psoriasis reveals an association with IL2/IL21.

{{PMID|21383967|OA=1
}} Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

{{PMID|21875375}} Study of polymorphisms in 4q27, 10p15, and 22q13 regions in autoantibodies stratified type 1 diabetes patients.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6822844
|overall_frequency_n=5
|overall_frequency_d=128
|overall_frequency=0.0390625
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=1
|n_articles_annotated=1
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23172754
|Title=Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility
}}

{{PMID Auto
|PMID=22328738
|Title=Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.
|OA=1
}}

{{PMID Auto
|PMID=23645042
|Title=IL2/IL21 region polymorphism influences response to rituximab in systemic lupus erythematosus patients.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}