rs9271366

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GWAS Catalog Trait Associations (4)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

multiple sclerosis

“Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.” Nature Genetics 41(7):824-8 (2009)
Allele G
OR 2.78
p 7.0e-184
N 5,031
Large GWAS
European
Nischwitz S et al. “Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.” Journal of Neuroimmunology 227(1-2):162-6 (2010)
Allele G
OR 2.62
p 4.0e-17
N 1,415
Large GWAS
European

ulcerative colitis, Crohn's disease

Okada Y et al. “HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease.” Gastroenterology 141(3):864-871.e1-5 (2011)
Allele C
OR 4.44
p 2.0e-70
N 744
Small GWAS
East Asian

ulcerative colitis

Yang SK et al. “Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.” Inflammatory Bowel Diseases 19(5):954-66 (2013)
Allele G
OR 2.10
p 1.0e-18
N 1,127
Large GWAS
East Asian
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Research that mentions this SNP (2)

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Functional relevance for multiple sclerosis-associated genetic variants
FunctionalXiang Lin et al.(2015)· Immunogenetics

Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.

Traits studied:Multiple sclerosis
PubMedDOIMetascience Observatory
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MHC region and risk of systemic lupus erythematosus in African American women
AssociationN=1,145Ruiz-Narvaez EA et al.(2011)· Human Genetics

Case-control study in 380 African-American SLE cases and 765 controls identified four independent SNPs in the MHC region associated with systemic lupus erythematosus. The strongest signal was rs9271366 (OR=1.70, p=5.6×10⁻⁵) near HLA-DRB1, with conditional analysis revealing three additional independent variants: rs204890 (OR=1.86, p=1.2×10⁻⁴) in ATF6B, rs2071349 (OR=1.53, p=1.0×10⁻³) in HLA-DPB1, and rs2844580 (OR=1.43, p=1.3×10⁻³) near HLA-B/MICA. A combined genotype score showed additive risk with OR=1.67 per high-risk allele (p<0.0001).

Traits studied:SLE with abnormal antinuclear antibody titersSLE with arthritisSLE with hematologic disorderSLE with immunologic disorderSLE with renal disorderSLE with serositisSLE with skin manifestationsSystemic lupus erythematosus
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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