rs1260326

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0
(C;T)	1.3	slightly higher risk for gout
(T;T)	1.6	slightly higher risk for gout

Reference

GRCh38 38.1/141

Chromosome

2

Position

27508073

Gene

GCKR

is a	snp
is	mentioned by
dbSNP	rs1260326
dbSNP (classic)	rs1260326
ClinGen	rs1260326
ebi	rs1260326
HLI	rs1260326
Exac	rs1260326
Gnomad	rs1260326
Varsome	rs1260326
LitVar	rs1260326
Map	rs1260326
PheGenI	rs1260326
Biobank	rs1260326
1000 genomes	rs1260326
hgdp	rs1260326
ensembl	rs1260326
geneview	rs1260326
scholar	rs1260326
google	rs1260326
pharmgkb	rs1260326
gwascentral	rs1260326
openSNP	rs1260326
23andMe	rs1260326
SNPshot	rs1260326
SNPdbe	rs1260326
MSV3d	rs1260326
GWAS Ctlg	rs1260326

GMAF

0.3848

Max Magnitude

1.6

?	(C;C) (C;T) (T;T)	28

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

[PMID 18678614] 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 19060906]
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 19060910]
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 25288136] Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.

[PMID 19526250] Glucokinase regulatory protein gene polymorphism affects postprandial lipemic response in a dietary intervention study

[PMID 19651812] 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 20081857]
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 20383146]
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 20802025] Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study

GWAS snp
PMID	[PMID 20657596]
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

OMIM	600842
Desc	GLUCOKINASE REGULATORY PROTEIN; GCKR
Variant
Related	also

OMIM	600842
Desc
Variant	0001
Related	also

GWAS snp
PMID	[PMID 21300955]
Trait
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 21525158] Triglyceride Response to an Intensive Lifestyle Intervention Is Enhanced in Carriers of the GCKR Pro446Leu Polymorphism

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

GWAS snp
PMID	[PMID 22139419]
Trait
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 22001757]
Trait
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 21943158]
Trait
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 20686565]
Trait
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 22558069]
Trait
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 22286219]
Trait
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 18439548] 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 18439552] Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

[PMID 18556336] 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 19073768] Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents.

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

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

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

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

[PMID 19656773] 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 19913121] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 20160193] 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 20339536] 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 20628598] Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.

[PMID 20661421] 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 21423719] Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.

[PMID 21647738] 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.

GWAS snp
PMID	[PMID 23022100]
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 23263486]
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 22916037]
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 23505323]
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]

ClinVar
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
Gene	GCKR
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 23903356]
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 23092954] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

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

[PMID 23586973] 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 24799990] Pediatric non-alcoholic fatty liver disease: New insights and future directions

GWAS snp
PMID	[PMID 24386095]
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 24097068]
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 24816252]
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

[PMID 27882376] Plasma levels of the anti-coagulation protein C and the risk of ischaemic heart disease. A Mendelian randomisation study.

[PMID 29385134] Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

[PMID 30091126] Association of type 2 diabetes susceptible genes GCKR, SLC30A8, and FTO polymorphisms with gestational diabetes mellitus risk: a meta-analysis.

[PMID 30176313] Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos.

[PMID 30444569] Genetic determinants of steatosis and fibrosis progression in pediatric non-alcoholic fatty liver disease.

[PMID 30476131] Mendelian randomization analysis of C-reactive protein on colorectal cancer risk.

[PMID 30924303] Gout and the risk of Alzheimer's disease: A Mendelian randomization study.

[PMID 31578044] Maternal seafood consumption during pregnancy and child attention outcomes: a cohort study with gene effect modification by PUFA-related genes.

[PMID 31796261] Contribution of genetic, biochemical and environmental factors on insulin resistance and obesity in Mexican young adults.

[PMID 31910446] Genome-wide association study of metabolic syndrome in Korean populations.

[PMID 31998841] Functional validity, role, and implications of heavy alcohol consumption genetic loci.

[PMID 32349377] Possible Relevance of PNPLA3 and TLL1 Gene Polymorphisms to the Efficacy of PEG-IFN Therapy for HBV-Infected Patients.