rs1046875

This is a downstream gene variant variant in the FN3KRP gene.

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GWAS Catalog Trait Associations (1)

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

HbA1c measurement

Chen P et al. “Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.” Diabetes 63(7):2551-62 (2014)
Allele A
OR 0.08
p 4.0e-17
N 19,017
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Common quantitative trait locus downstream of RETN gene identified by genome‐wide association study is associated with risk of type 2 diabetes mellitus in Han Chinese: a Mendelian randomization effect
AssociationN=4,341Chia‐Min Chung et al.(2014)· Diabetes/Metabolism Research and Reviews

This genome-wide association study identified two SNPs (rs3745367 and rs1423096) in the RETN gene associated with circulating resistin levels in Han Chinese hypertensive subjects. Using Mendelian randomization in an independent cohort (CVDFACTS), rs1423096 was significantly associated with metabolic syndrome risk (OR=2.21, p=0.0034) and type 2 diabetes mellitus (OR=1.62, p=0.0063), providing evidence that resistin causally contributes to T2DM development.

Traits studied:HDL-C levelsHypertensionInsulin resistanceMetabolic syndromeResistin levelsType 2 diabetes mellitus
PubMedDOIMetascience Observatory

About FN3KRP

A high concentration of glucose can result in non-enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of psicosamines and ribulosamines compared to the neighboring gene which encodes a highly similar enzyme, fructosamine-3-kinase, which has different substrate specificity. The activity of both enzymes may result in deglycation of proteins to restore their function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

View all FN3KRP variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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