Of SNPs outside the HLA region, this SNP and one other (rs6822844) 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]
[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 19201773] Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis
[PMID 20184734] The 4q27 locus and familial prostate cancer risk
|Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
[PMID 22355377] Caucasian and asian specific rheumatoid arthritis risk Loci reveal limited replication and apparent allelic heterogeneity in north indians
[PMID 18311140] Newly identified genetic risk variants for celiac disease related to the immune response.
[PMID 18369459] 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 19061490] FitSNPs: highly differentially expressed genes are more likely to have variants associated with disease.
[PMID 19176549] Genome-wide association analysis by lasso penalized logistic regression.
[PMID 20553587] 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.
[PMID 21304239] Analysis of IL2/IL21 gene variants in cholestatic liver diseases reveals an association with primary sclerosing cholangitis.