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rs1260326

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome2
Position27508073
GeneGCKR
is asnp
is mentioned by
dbSNPrs1260326
ebirs1260326
HLIrs1260326
Exacrs1260326
Varsomers1260326
Maprs1260326
PheGenIrs1260326
hapmaprs1260326
1000 genomesrs1260326
hgdprs1260326
ensemblrs1260326
gopubmedrs1260326
geneviewrs1260326
scholarrs1260326
googlers1260326
pharmgkbrs1260326
gwascentralrs1260326
openSNPrs1260326
23andMers1260326
23andMe allrs1260326
SNP Nexus

SNPshotrs1260326
SNPdbers1260326
MSV3drs1260326
GWAS Ctlgrs1260326
GMAF0.3848
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

OMIM600842
DescGLUCOKINASE REGULATORY PROTEIN; GCKR
Variant
Relatedalso




OMIM600842
Desc
Variant0001
Relatedalso
GWAS snp
PMID [PMID 21300955OA-icon.png]
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 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]
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 22001757OA-icon.png]
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 21943158OA-icon.png]
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 20686565OA-icon.png]
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 22558069OA-icon.png]
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 22286219OA-icon.png]
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 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
GCKR-L446P
aa_change Leu446Pro
aa_change_short L446P
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.678751
summary



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]


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 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


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