rs11078659

This variant is located in the ALOX12 gene.

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GWAS Catalog Trait Associations (1)

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

venous thromboembolism

Thibord F et al. “Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors.” Circulation 146(16):1225-1242 (2022)

Allele A

OR 0.04

p 2.0e-9

N 1,066,917

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic variation in the carbonyl reductase 3 gene confers risk of type 2 diabetes and insulin resistance: a potential regulator of adipogenesis

AssociationN=8,075Chang YC et al.(2012)· Journal of Molecular Medicine

This case-control association study identified rs10483032 in the CBR3 gene as associated with type 2 diabetes and insulin resistance in Chinese populations (combined OR = 1.29, 95% CI = 1.14-1.47, P < 0.0001). The association was replicated in multiple Chinese samples and validated in the FUSION GWAS. Functional studies demonstrated CBR3 expression increases during adipocyte differentiation, and CBR3 knockdown enhanced adipogenesis, suggesting the risk variant modulates type 2 diabetes susceptibility through effects on adipogenesis and insulin sensitivity.

Traits studied:Fasting glucoseFasting insulinHOMA-IRInsulin resistanceType 2 diabetes

PubMed DOI Metascience Observatory

About ALOX12

This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]