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rs780094

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) metabolic consequences
(A;G) metabolic consequences
(G;G) 0 average
ReferenceGRCh38 38.1/142
Chromosome2
Position27518370
GeneGCKR
is asnp
is mentioned by
dbSNPrs780094
ebirs780094
HLIrs780094
Exacrs780094
Varsomers780094
Maprs780094
PheGenIrs780094
hapmaprs780094
1000 genomesrs780094
hgdprs780094
ensemblrs780094
gopubmedrs780094
geneviewrs780094
scholarrs780094
googlers780094
pharmgkbrs780094
gwascentralrs780094
openSNPrs780094
23andMers780094
23andMe allrs780094
SNP Nexus

SNPshotrs780094
SNPdbers780094
MSV3drs780094
GWAS Ctlgrs780094
GMAF0.3857
Max Magnitude0
? (A;A) (A;G) (G;G) 28
[PMID 19241058] rs780094, a SNP in the GCKR gene encoding the glucokinase regulatory protein, contributes to the risk of type-2 diabetes and dyslipidaemia in mulitple populations. The effect on type 2 diabetes is probably mediated through impaired beta cell function rather than through obesity. The rs780094(A) risk allele is associated with the following traits [PMID 18008060]:
  • higher levels of fasting serum triacylglycerol
  • impaired fasting and OGTT-related insulin release
  • dyslipidemia
  • somewhat reduced risk of type-2 diabetes

There may also be an additive effect between this SNP and a SNP known as 'GCK -30A', rs1799884, at least on fasting serum insulin levels. [PMID 18008060]

[PMID 18596051] rs780094 influences severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched normolipidemic controls.

[PMID 18678614OA-icon.png] rs780094 may be acting as a proxy for a nearby tightly linked (r(2)=0.93) SNP, rs1260326, which encodes a common missense GCKR variant. Both are linked to opposite effects on fasting plasma triglyceride and glucose concentrations, and, associated with C-reactive protein levels.

GWAS
SNP rs780094
PubMedID [PMID 18193043]
Condition Triglycerides
Gene GCKR
Risk Allele T
pValue 6.00E-032
OR 8.59
95% CI NR) mg/dl highe


GWAS snp
PMID [PMID 19060911OA-icon.png]
Trait Triglycerides
Title Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele G
P-val 3E-20
Odds Ratio 0.10 [NR] SD decrease
GWAS snp
PMID [PMID 18439548OA-icon.png]
Trait C-reactive protein
Title Loci Related to Metabolic-Syndrome Pathways Including LEPR, HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study
Risk Allele A
P-val 7.0000000000000001E-15
Odds Ratio 0.14 [NR] mg/dl increase
GWAS snp
PMID [PMID 18193044OA-icon.png]
Trait Triglycerides
Title Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Risk Allele T
P-val 2.9999999999999998E-14
Odds Ratio 0.13 [0.09-0.17]% SD higher
GWAS snp
PMID [PMID 18179892OA-icon.png]
Trait LDL cholesterol
Title Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia
Risk Allele T
P-val 4.9999999999999998E-7
Odds Ratio NR NR
GWAS snp
PMID [PMID 19503597OA-icon.png]
Trait Uric acid concentrations
Title Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations
Risk Allele T
P-val 1E-9
Odds Ratio 0.05 [0.035-0.068] mg/dl increase

[PMID 19890391OA-icon.png] Common polymorphisms influencing serum uric Acid levels contribute to susceptibility to gout, but not to coronary artery disease



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

GWAS snp
PMID [PMID 20081858OA-icon.png]
Trait Fasting glucose-related traits
Title New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
Risk Allele C
P-val 6E-38
Odds Ratio None None


[PMID 20574426] The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population

[PMID 20661421OA-icon.png] Association of rs780094 in GCKR with Metabolic Traits and Incident Diabetes and Cardiovascular Disease: The ARIC Study

[PMID 20693352OA-icon.png] Interactions of dietary whole grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies

[PMID 20839289OA-icon.png] Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose

[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
[PMID 21036910OA-icon.png] Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) Study
OMIM613463
Desc
Variant
Relatedalso
[PMID 21411509OA-icon.png] Variants of GCKR Affect Both {beta}-Cell and Kidney Function in Patients With Newly Diagnosed Type 2 Diabetes: The Verona Newly Diagnosed Type 2 Diabetes Study 2

[PMID 21421807OA-icon.png] In a study conducted on 6,580 Nondiabetic Finnish Men, the glucose-increasing allele of rs780094 in GCKR was significantly associated with low concentrations of VLDL particles (independently of their size) and small LDL and was nominally associated with low concentrations of intermediate-density lipoprotein, all LDL subclasses, and high concentrations of very large and large HDL particles.


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


[PMID 21149302OA-icon.png] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population


[PMID 21887289OA-icon.png] Glucose-Raising Genetic Variants in MADD and ADCY5 Impair Conversion of Proinsulin to Insulin

GWAS snp
PMID [PMID 21829377OA-icon.png]
Trait
Title Genetic Loci Associated with Plasma Phospholipid n-3 Fatty Acids: A Meta-Analysis of Genome-Wide Association Studies from the CHARGE Consortium.
Risk Allele T
P-val 9E-9
Odds Ratio 0.0200 [NR] % increase


[PMID 22015968OA-icon.png] Genes Related to Diabetes May Be Associated With Pancreatic Cancer in a Population-Based Case-Control Study in Minnesota

GWAS snp
PMID [PMID 21886157OA-icon.png]
Trait
Title Human metabolic individuality in biomedical and pharmaceutical research.
Risk Allele T
P-val 6E-53
Odds Ratio 0.1010 None


[PMID 22553379OA-icon.png] Hyperglycemia and a Common Variant of GCKR Are Associated With the Levels of Eight Amino Acids in 9,369 Finnish Men

GWAS snp
PMID [PMID 22399527OA-icon.png]
Trait
Title Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
Risk Allele A
P-val 6E-20
Odds Ratio 0.1300 None


[PMID 17903299OA-icon.png] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.


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


[PMID 18521185OA-icon.png] Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.


[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 18587394OA-icon.png] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.


[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


[PMID 19056598OA-icon.png] Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states.


[PMID 19060907OA-icon.png] Variants in MTNR1B influence fasting glucose levels.


[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.


[PMID 19068216OA-icon.png] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.


[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 19096518OA-icon.png] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.


[PMID 19111066OA-icon.png] Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits.


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


[PMID 19161620OA-icon.png] An open access database of genome-wide association results.


[PMID 19185284OA-icon.png] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.


[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.


[PMID 19336475OA-icon.png] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.


[PMID 19435741OA-icon.png] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.


[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 19679263OA-icon.png] Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study.


[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.


[PMID 19822575OA-icon.png] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.


[PMID 19861489] Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms.


[PMID 19937311] Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.


[PMID 20017967OA-icon.png] Genome-wide association analyses of North American Rheumatoid Arthritis Consortium and Framingham Heart Study data utilizing genome-wide linkage results.


[PMID 20031577OA-icon.png] Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.


[PMID 20043853OA-icon.png] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.


[PMID 20081857OA-icon.png] Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.


[PMID 20152958OA-icon.png] A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.


[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.


[PMID 20162742OA-icon.png] Predictive value of 8 genetic loci for serum uric acid concentration.


[PMID 20162743OA-icon.png] Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series.


[PMID 20502693OA-icon.png] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.


[PMID 20625834] Genetic variation in the GCKR gene is associated with non-alcoholic fatty liver disease in Chinese people.


[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 20668700OA-icon.png] Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion.


[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.


[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


[PMID 21318467] Glucokinase regulatory protein (GCKR) gene rs4425043 polymorphism is associated with overweight and obesity in Chinese women.


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


[PMID 21643755] Common functional variants of APOA5 and GCKR accumulate gradually in association with triglyceride increase in metabolic syndrome patients.


[PMID 22354904OA-icon.png] Genetic variants, prediagnostic circulating levels of insulin-like growth factors, insulin, and glucose and the risk of colorectal cancer: the Multiethnic Cohort study.


[PMID 22395765] Association between gout and polymorphisms in GCKR in male Han Chinese.

GWAS snp
PMID [PMID 22581228OA-icon.png]
Trait
Title A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Risk Allele
P-val 3E-10
Odds Ratio None None


GET Evidence
rs780094
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.703125
summary



[PMID 23150898OA-icon.png] Evaluation of seven common lipid associated loci in a large Indian sib pair study


[PMID 23587283OA-icon.png] Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four U.S. populations: The Population Architecture using Genomics and Epidemiology (PAGE) study


[PMID 23840762OA-icon.png] Large Scale Meta-Analyses of Fasting Plasma Glucose Raising Variants in GCK, GCKR, MTNR1B and G6PC2 and Their Impacts on Type 2 Diabetes Mellitus Risk


[PMID 23990951OA-icon.png] Association of genetic variants with isolated fasting hyperglycaemia and isolated postprandial hyperglycaemia in a han chinese population

GWAS snp
PMID [PMID 23726366OA-icon.png]
Trait Triglycerides
Title Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations.
Risk Allele C
P-val 7E-9
Odds Ratio .07 [NR] unit increase


[PMID 24477042] Genetic variants in GCKR and PNPLA3 confer susceptibility to nonalcoholic fatty liver disease in obese individuals


[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 23307301] Association of glucokinase regulatory protein polymorphism with type 2 diabetes and fasting plasma glucose: a meta-analysis.


[PMID 23456907OA-icon.png] Maternal genotype and gestational diabetes.


[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.


[PMID 23712608] Genetic variability related to serum uric acid concentration and risk of Parkinson's disease.


[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 24804806OA-icon.png] The association between Mediterranean Diet Score and glucokinase regulatory protein gene variation on the markers of cardiometabolic risk: an analysis in the European Prospective Investigation into Cancer (EPIC)-Norfolk study

GWAS snp
PMID [PMID 24068962OA-icon.png]
Trait Calcium levels
Title Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
Risk Allele T
P-val 1E-10
Odds Ratio .02 [0.016-0.018] unit increase
GWAS snp
PMID [PMID 20139978]
Trait Urate levels
Title Genome-wide association study of hematological and biochemical traits in a Japanese population.
Risk Allele T
P-val 5E-6
Odds Ratio .07 [0.040,0.098] unit increase


[PMID 25283508OA-icon.png] Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population


[PMID 26252223OA-icon.png] Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes


[PMID 26290326OA-icon.png] Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study