rs11220471

This is a intron variant variant in the ST3GAL4 gene.

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GWAS Catalog Trait Associations (1)

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

E-selectin amount

Sliz E et al. “Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns.” Journal of Medical Genetics 56(9):607-616 (2019)
Allele G
OR 0.16
p 8.0e-12
N 5,284
Large GWAS
European
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Research that mentions this SNP (1)

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The dual and opposite role of the TM6SF2‐rs58542926 variant in protecting against cardiovascular disease and conferring risk for nonalcoholic fatty liver: A meta‐analysis
AssociationN=13,577Carlos J. Pirola et al.(2015)· Hepatology

This doctoral thesis comprises three studies on metabolic syndrome-related traits. Study III is a GWAS identifying seven novel loci associating with circulating inflammatory markers (cytokines and adhesion molecules) in 5,284 Finnish individuals from NFBC1966, with meta-analysis including three additional Finnish populations totaling 13,577 participants. Studies I and II use Mendelian randomization and association analysis to examine metabolic effects of lipid-lowering therapies and NAFLD risk alleles (PNPLA3 rs738409-G, TM6SF2 rs58542926-T, GCKR rs780094-T/rs1260326-T, LYPLAL1 rs12137855-C, and NCAN rs2228603-T).

Traits studied:Cardiovascular diseaseCirculating inflammatory markersCytokines and cell adhesion moleculesIL1-betaIL1-receptor antagonistIL17IL4IL6IL8IP10Lipid metabolismMCP1Metabolic syndromeNon-alcoholic fatty liver disease (NAFLD)Soluble E-selectinSoluble ICAM-1Soluble VCAM-1TNF-alphaType 2 diabetes riskVEGF
PubMedDOIMetascience Observatory

About ST3GAL4

This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

View all ST3GAL4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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