rs46522

This is a upstream gene variant variant in the UBE2Z gene.

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GWAS Catalog Trait Associations (1)

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

coronary artery disease

Schunkert H et al. “Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.” Nature Genetics 43(4):333-338 (2011)
Allele T
OR 1.06
p 2.0e-8
N 86,995
Large GWAS
European
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Research that mentions this SNP (1)

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Diet-induced gene expression of isolated pancreatic islets from a polygenic mouse model of the metabolic syndrome
FunctionalDreja T. et al.(2010)· Diabetologia

This functional study used New Zealand obese mice fed high-fat (HF) or carbohydrate-free high-fat (CHF) diets to identify candidate genes and pathways involved in diet-induced type 2 diabetes. Laser capture microdissection of pancreatic islets revealed 2,109 differentially expressed genes; 39 of these correlated with human genome-wide association studies (DGI and WTCCC), including validated hits such as IGF2BP2 and TSPAN8. The most significant finding was upregulation of oxidative phosphorylation genes in response to HF diet, implicating glucose-induced oxidative stress in beta cell failure.

Traits studied:Beta cell dysfunctionGlucose intoleranceHyperglycemiaMetabolic syndromeObesityType 2 diabetes
PubMedDOIMetascience Observatory

About UBE2Z

This gene encodes an enzyme which ubiquitinates proteins which participate in signaling pathways and apoptosis. [provided by RefSeq, Feb 2012]

View all UBE2Z variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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