Have questions? Visit https://www.reddit.com/r/SNPedia

rs6822844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common on affy axiom data
Make rs6822844(G;T)
Make rs6822844(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position122588266
is asnp
is mentioned by
dbSNPrs6822844
ebirs6822844
HLIrs6822844
Exacrs6822844
Varsomers6822844
Maprs6822844
PheGenIrs6822844
hapmaprs6822844
1000 genomesrs6822844
hgdprs6822844
ensemblrs6822844
gopubmedrs6822844
geneviewrs6822844
scholarrs6822844
googlers6822844
pharmgkbrs6822844
gwascentralrs6822844
openSNPrs6822844
23andMers6822844
23andMe allrs6822844
SNP Nexus

SNPshotrs6822844
SNPdbers6822844
MSV3drs6822844
GWAS Ctlgrs6822844
GMAF0.06749
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 17999365OA-icon.png] 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 17558408OA-icon.png]

GWAS
SNP rs6822844
PubMedID [PMID 17558408OA-icon.png]
Condition Celiac disease
Gene KIA1109,TENR,IL2,IL21
Risk Allele G
pValue 1.00E-014
OR 1.59
95% CI 1.41-1.75


[PMID 19302705OA-icon.png] Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study.

GWAS snp
PMID [PMID 18311140OA-icon.png]
Trait Celiac disease
Title Newly identified genetic risk variants for celiac disease related to the immune response
Risk Allele C
P-val 2.9999999999999998E-13
Odds Ratio 1.44 [1.30-1.58]

[PMID 19455118] 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 19471255] Novel Association of the Interleukin 2-Interleukin 21 Region With Inflammatory Bowel Disease

[PMID 19201773OA-icon.png] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis


[PMID 19404967] Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis

OMIM611598
DescCELIAC DISEASE, SUSCEPTIBILITY TO, 6; CELIAC6
Variant
Relatedalso
OMIM611565
DescKIAA1109 GENE; KIAA1109
Variant
Relatedalso
[PMID 20184734OA-icon.png] The 4q27 locus and familial prostate cancer risk


[PMID 20553587OA-icon.png] 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


OMIM601454
Desc
Variant
Relatedalso


[PMID 22130325] IL-23R rs11209026 polymorphism modulates IL-17A expression in patients with rheumatoid arthritis


[PMID 22087237OA-icon.png] Improving the estimation of celiac disease sibling risk by non-HLA genes


[PMID 21269573] Role of the rs6822844 gene polymorphism at the IL2-IL21 region in biopsy-proven giant cell arteritis.

[PMID 18369459OA-icon.png] 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 18713140OA-icon.png] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

[PMID 18794853OA-icon.png] Common variants at CD40 and other loci confer risk of rheumatoid arthritis.

[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.

[PMID 19176549OA-icon.png] Genome-wide association analysis by lasso penalized logistic regression.

[PMID 19180477OA-icon.png] 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 19359276OA-icon.png] 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 19468064OA-icon.png] 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 19546505OA-icon.png] IL-21 drives secondary autoimmunity in patients with multiple sclerosis, following therapeutic lymphocyte depletion with alemtuzumab (Campath-1H).

[PMID 20072139OA-icon.png] Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.

[PMID 20112382OA-icon.png] Confirmation of an association between rs6822844 at the Il2-Il21 region and multiple autoimmune diseases: evidence of a general susceptibility locus.

[PMID 20179739OA-icon.png] Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk.

[PMID 20444755OA-icon.png] 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 21383967OA-icon.png] 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
rs6822844
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0390625
summary



[PMID 23172754OA-icon.png] Implication of IL-2/IL-21 region in systemic sclerosis genetic susceptibility


[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.


[PMID 23645042] IL2/IL21 region polymorphism influences response to rituximab in systemic lupus erythematosus patients.


[PMID 25037274] Autoimmune diseases association study with the KIAA1109-IL2-IL21 region in a Tunisian population


[PMID 26535636] Association between IL2/IL21 and SH2B3 polymorphisms and risk of celiac disease: a meta-analysis