rs802734

GWAS Catalog Trait Associations (2)

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

celiac disease

Allele G
OR 1.17
p 3.0e-14
N 15,283
Large GWAS
European

multiple sclerosis

Allele A
OR 1.10
p 6.0e-9
N 26,621
Large GWAS
European

Research that mentions this SNP (3)

The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5 years of age
AssociationN=35,206Jamie R. J. Inshaw et al.(2018)· Diabetologia

This genome-wide association study identified two regions associated with age at diagnosis (AAD) of type 1 diabetes using ImmunoChip data from 15,696 cases: the MHC region (lead SNP rs9273363, p=2.16×10⁻³⁵) and the 6q22.33 region (lead SNP rs72975913, p=2.94×10⁻¹⁰, near PTPRK and THEMIS genes). The 6q22.33 region showed stronger association with early-onset type 1 diabetes (diagnosed <5 years, OR=0.78 for rs72975913), with a combined effect of 4.12 years younger diagnosis in homozygous carriers of both risk alleles.

Traits studied:Age at diagnosis of type 1 diabetesType 1 diabetes
Genetic variants associated with celiac disease and the risk for coronary artery disease
Meta-analysisN=86,995Henning Jansen et al.(2015)· Molecular Genetics and Genomics

This meta-analysis of 22,233 CAD cases and 64,762 controls tested 41 celiac disease-associated SNPs for association with coronary artery disease (CAD). While 58.5% of celiac disease risk alleles showed positive association with CAD (OR 1.001-1.081), this was not significantly different from the 50% expected by chance (p=0.069). Only rs653178 at the SH2B3/ATXN2 locus achieved study-wide statistical significance (OR 1.081, p=2.2×10⁻⁶), likely through pleiotropic effects. The findings provide no convincing evidence that genetic variants associated with celiac disease contribute to CAD risk.

Traits studied:Celiac diseaseCoronary artery disease
Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility loci
Meta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology

This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.

Traits studied:Celiac diseaseCrohn's diseaseMultiple sclerosisPsoriasisRheumatoid arthritisSystemic lupus erythematosusType 1 diabetesUlcerative colitis

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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