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From SNPedia

Geno Mag Summary
(C;C) 0
(C;T) 1.3 slightly higher risk for gout
(T;T) 1.6 slightly higher risk for gout
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1260326
23andMe allrs1260326
SNP Nexus

GWAS Ctlgrs1260326
Max Magnitude1.6
? (C;C) (C;T) (T;T) 28

The T allele of rs1260326 has been associated with type 2 diabetes and hypertriglyceridemia.

[PMID 18678614OA-icon.png] A fine mapping approach indicates that this SNP, rs1260326, shows the strongest association signal with metabolic phenotypes in the region that also harbors the tightly linked (r(2)=0.93) SNP rs780094, which has been previously associated with triglyceride and glucose concentrations. This SNP, rs1260326, encodes a common missense glucokinase regulatory protein gene GCKR variant.

gout association, based on [PMID 25646370]

GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait Triglycerides
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele T
P-val 2E-31
Odds Ratio 0.12 [0.08-0.16] SD increase
GWAS snp
PMID [PMID 19060910OA-icon.png]
Trait Other metabolic traits
Title Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Risk Allele A
P-val 4E-10
Odds Ratio 0.09 [0.06-0.12] mmol/l increase
GWAS snp
PMID [PMID 18454146]
Trait Waist circumference and related phenotypes
Title Common genetic variation near MC4R is associated with waist circumference and insulin resistance
Risk Allele
P-val 4.0000000000000001E-8
Odds Ratio NR NR

[PMID 25288136OA-icon.png] Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.

[PMID 19526250OA-icon.png] Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study

[PMID 19651812OA-icon.png] Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type-2 diabetes amongst Indian Asians and European whites

GWAS snp
PMID [PMID 20081857OA-icon.png]
Trait Two-hour glucose challenge
Title Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge
Risk Allele T
P-val 3E-10
Odds Ratio 0.07 [0.05-0.09] mmol/L increase
GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population
Risk Allele C
P-val 4E-9
Odds Ratio 0.36 [NR] % variance
GWAS snp
PMID [PMID 20383146OA-icon.png]
Trait Chronic kidney disease
Title New loci associated with kidney function and chronic kidney disease
Risk Allele T
P-val 3E-14
Odds Ratio 0.01 [0.007-0.011] ml/min/1.73 m2 increase

[PMID 20802025OA-icon.png] Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study

GWAS snp
PMID [PMID 20657596OA-icon.png]
Trait Hypertriglyceridemia
Title Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia
Risk Allele T
P-val 7E-9
Odds Ratio 1.75 [1.45-2.12]

[PMID 20352598] Glucokinase-activating GCKR polymorphisms increase plasma levels of triglycerides and free fatty acids, but do not elevate cardiovascular risk in the Ludwigshafen Risk and Cardiovascular Health Study


GWAS snp
PMID [PMID 21300955OA-icon.png]
Title Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels
Risk Allele T
P-val 5E-40
Odds Ratio 0.0720 [0.06-0.08] unit increase

[PMID 21525158OA-icon.png] Triglyceride Response to an Intensive Lifestyle Intervention Is Enhanced in Carriers of the GCKR Pro446Leu Polymorphism

[PMID 22105854OA-icon.png] A variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents

GWAS snp
PMID [PMID 22139419OA-icon.png]
Title New gene functions in megakaryopoiesis and platelet formation.
Risk Allele T
P-val 9E-10
Odds Ratio 2.3340 None
GWAS snp
PMID [PMID 22001757OA-icon.png]
Title Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Risk Allele T
P-val 4E-13
Odds Ratio 3.2000 None
GWAS snp
PMID [PMID 21943158OA-icon.png]
Title Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
Risk Allele T
P-val 2E-8
Odds Ratio 0.0820 [0.053-0.111] mmol/l increase
GWAS snp
PMID [PMID 20686565OA-icon.png]
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele T
P-val 0
Odds Ratio 8.7600 None

[PMID 22716779] Relevant associations of the glucokinase regulatory protein/glucokinase gene variation with TAG concentrations in a high-cardiovascular risk population: modulation by the Mediterranean diet

GWAS snp
PMID [PMID 22558069OA-icon.png]
Title Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
Risk Allele C
P-val 3E-9
Odds Ratio 0.0800 None
GWAS snp
PMID [PMID 22286219OA-icon.png]
Title Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Risk Allele
P-val 3E-18
Odds Ratio 0.1500 None

[PMID 18439548OA-icon.png] Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

[PMID 18439552OA-icon.png] Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

[PMID 18556336OA-icon.png] The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.

[PMID 18853134] The search for putative unifying genetic factors for components of the metabolic syndrome.

[PMID 19073768OA-icon.png] Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents.

[PMID 19148283OA-icon.png] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

[PMID 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19533084OA-icon.png] Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk.

[PMID 19656773OA-icon.png] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

[PMID 19847674] Functional variants of glucokinase regulatory protein and apolipoprotein A5 genes in ischemic stroke.

[PMID 19913121OA-icon.png] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 20160193OA-icon.png] Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.

[PMID 20339536OA-icon.png] Genome-wide association of lipid-lowering response to statins in combined study populations.

[PMID 20570915] Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

[PMID 20628598OA-icon.png] Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.

[PMID 20661421OA-icon.png] Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study.

[PMID 21071687] TRIB1 and GCKR polymorphisms, lipid levels, and risk of ischemic heart disease in the general population.

[PMID 21423719OA-icon.png] Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.

[PMID 21647738OA-icon.png] Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.

GET Evidence
aa_change Leu446Pro
aa_change_short L446P
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.678751

GWAS snp
PMID [PMID 23022100OA-icon.png]
Trait Serum albumin level
Title Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
Risk Allele T
P-val 4E-19
Odds Ratio .01 [0.011-0.017] unit increase
GWAS snp
PMID [PMID 23118302]
Trait Lipoprotein-associated phospholipase A2 activity and mass
Title Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
Risk Allele T
P-val 5E-6
Odds Ratio .01 [-0.00215-0.01275] ng/ml decrease
GWAS snp
PMID [PMID 23263486OA-icon.png]
Trait Urate levels
Title Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Risk Allele T
P-val 1E-44
Odds Ratio .07 [0.063-0.084] mg/dl increase
GWAS snp
PMID [PMID 22916037OA-icon.png]
Trait Metabolite levels
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Risk Allele
P-val 1E-12
Odds Ratio NR NR
GWAS snp
PMID [PMID 23505323OA-icon.png]
Trait Hypertriglyceridemia
Title Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
Risk Allele
P-val 2E-13
Odds Ratio 1.41 [1.31-1.51]

Risk rs1260326(C;C)
Alt rs1260326(C;C)
Reference rs1260326(T;T)
Significance Other
Disease Fasting plasma glucose level quantitative trait locus 5
Variation info
CLNDBN Fasting plasma glucose level quantitative trait locus 5
Reversed 0
HGVS NC_000002.11:g.27730940T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009294.2,

GWAS snp
PMID [PMID 23903356OA-icon.png]
Trait Glycemic traits (pregnancy)
Title Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
Risk Allele T
P-val 6E-13
Odds Ratio .00 [NR] unit decrease

[PMID 22517333] Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.

[PMID 23092954OA-icon.png] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

[PMID 23275357OA-icon.png] The association between hepatic fat content and liver injury in obese children and adolescents: effects of ethnicity, insulin resistance, and common gene variants.

[PMID 23586973OA-icon.png] Investigation of known estimated glomerular filtration rate loci in patients with Type 2 diabetes.

[PMID 23800943] Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene.

[PMID 23832694] Common genetic variants associated with lipid profiles in a Chinese pediatric population.

[PMID 24799990OA-icon.png] Pediatric non-alcoholic fatty liver disease: New insights and future directions

GWAS snp
PMID [PMID 24386095OA-icon.png]
Trait Lipid traits
Title A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
Risk Allele T
P-val 3E-7
Odds Ratio .07 mmol/L increase
GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele T
P-val 3E-42
Odds Ratio .05 [NR] unit increase
GWAS snp
PMID [PMID 24816252OA-icon.png]
Trait Blood metabolite levels
Title An atlas of genetic influences on human blood metabolites.
Risk Allele T
P-val 1E-77
Odds Ratio .04 [0.04-0.048] unit decrease

[PMID 25920552] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array

[PMID 26043229] Hepatic de novo lipogenesis in obese youth is modulated by a common variant in the GCKR gene

GWAS snp
PMID [PMID 19936222]
Trait Lipid metabolism phenotypes
Title Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
Risk Allele
P-val 4E-32
Odds Ratio .08 [NR] unit increase

[PMID 26433129] GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study

[PMID 26457389] Role of the TM6SF2 rs58542926 in the pathogenesis of non-alcoholic pediatric fatty liver disease (NAFLD): A multiethnic study