GCKR, glucokinase regulator, 2646

N. diseases: 136; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE Sub-phenotype analyses targeting the alcohol, caffeine and sweetener components of beverages yielded additional loci: (i) four loci for bitter alcoholic beverages (GCKR, KLB, ADH1B and AGBL2); (ii) five loci for bitter non-alcoholic beverages (ANXA9, AHR, POR, CYP1A1/2 and CSDC2); (iii) 10 loci for coffee; six novel loci (SEC16B, TMEM18, OR8U8, AKAP6, MC4R and SPECC1L-ADORA2A); (iv) FTO for SSBs. 31046077 2019
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
0.010 Biomarker disease BEFREE Mendelian randomization using GWAS meta-analysis data was performed to estimate the causal effect of non-alcoholic fatty liver disease (PNPLA3, LYPLAL1, NCAN, GCKR) on eGFR (N<sub>max</sub> 118,460), microalbuminuria (N<sub>max</sub> 54,116), and impaired renal function (N<sub>max</sub> 118,147). 31668939 2019
CUI: C0023895
Disease: Liver diseases
Liver diseases
0.010 GeneticVariation group BEFREE The prevalence of possession of both PNPLA3 and GCKR variant alleles combined was significantly higher in at-risk patients with clinically significant liver disease indicated by serum PIIINP above 11 ng/mL (P = .014). 29493856 2018
Hypertensive heart and renal disease
0.010 GeneticVariation disease BEFREE Association of common gene variants in glucokinase regulatory protein with cardiorenal disease: A systematic review and meta-analysis. 30352097 2018
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
0.010 GeneticVariation phenotype BEFREE Glucokinase regulatory protein (GKRP) binds to GCK, leading to enzyme inhibition and import into the nucleus at fasting. 29704611 2018
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases
0.010 Biomarker group BEFREE Further investigations to dissect the relationship between GCKR and FGF21, with respect to the risk of metabolic diseases, are warranted. 28385800 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 GeneticVariation disease BEFREE The intragenic rs1244979, rs2815752 in NEGR1 gene, and rs780094 in GCKR gene were genotyped and CNVs were determined by droplet digital polymerase chain reaction (ddPCR) in PCOS patients (n = 153) and controls without metabolic syndrome (n = 142). 27878529 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 Biomarker disease BEFREE GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study. 26433129 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 Biomarker disease BEFREE GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study. 26433129 2016
CUI: C0019158
Disease: Hepatitis
Hepatitis
0.010 GeneticVariation group BEFREE Common variants in GCKR enhance de novo hepatic lipogenesis in response to glucose and liver inflammation. 26409295 2016
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia
0.010 GeneticVariation disease BEFREE A Common Gene Variant in Glucokinase Regulatory Protein Interacts With Glucose Metabolism on Diabetic Dyslipidemia: the Combined CODAM and Hoorn Studies. 27660121 2016
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
0.010 GeneticVariation group BEFREE Recently, genome-wide association studies (GWASs) have shown that variants in the gene encoding GKRP protect against T2DM and kidney disease but predispose to gout, nonalcoholic fatty liver disease, and dyslipidemia. 26432016 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 GeneticVariation group BEFREE Combined analysis of data from the two stages showed an association between maternal AA genotype of GCKR rs780094 and increased risk for total NTDs [odds ratio, 1.73; 95% confidence interval, 1.16-2.59) and spina bifida subtype [odds ratio, 1.83; 95% confidence interval, 1.16-2.88). 25369983 2015
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
0.010 GeneticVariation disease BEFREE Combined analysis of data from the two stages showed an association between maternal AA genotype of GCKR rs780094 and increased risk for total NTDs [odds ratio, 1.73; 95% confidence interval, 1.16-2.59) and spina bifida subtype [odds ratio, 1.83; 95% confidence interval, 1.16-2.88). 25369983 2015
Malignant neoplasm of stomach stage IV
0.010 GeneticVariation disease BEFREE Our results suggest IGF2BP2 and KCNQ1 polymorphisms might be independent predictors of chemotherapeutic response, while GCKR polymorphisms might be independent predictors of survival in MGC patients treated with first-line EOF chemotherapy. 26115082 2015
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation disease BEFREE No differences in genotype distributions were found except for underrepresentation of GCKR TT homozygotes among GCK-MODY patients (10.9% in GCK-MODY vs. 17.7% in T1DM, p=0.0651). 24918535 2014
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune
0.010 Biomarker disease BEFREE Genetic variability of GCKR alters lipid profiles in children with monogenic and autoimmune diabetes. 24918535 2014
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 GeneticVariation disease BEFREE In patients with NAFLD, GCKR rs780094 C>T is associated with the severity of liver fibrosis and with higher serum triglyceride levels. 24498332 2014
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
0.010 GeneticVariation disease BEFREE The study group included 129 children with GCK-MODY from the Polish Registry of Monogenic Diabetes and 395 with type 1 diabetes (T1DM), in whom we genotyped 2 SNPs in G6PC2 (rs560887) and GCKR (rs1260326). 24918535 2014
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 AlteredExpression disease BEFREE From these, we more fully evaluated the following: asparagine-linked glycosylation 10 homolog (yeast, α-1,2-glucosyltransferase); butyrylcholinesterase; dipeptidyl-peptidase 4 (CD26, adenosine deaminase complexing protein 2); glucokinase (hexokinase 4) regulator; guanylate cyclase 1, soluble, β 3; MYST histone acetyltransferase 1; protein phosphatase 3 (formerly 2B), catalytic subunit, β isoform; peroxisomal proliferator-activated receptor-γ-DBD-interacting protein 1; and solute carrier family 27 (fatty acid transporter), member 2; and demonstrated that they enabled IFNα-mediated suppression of HCV at multiple steps of its life cycle. 23462180 2013
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.010 Biomarker phenotype BEFREE Induction of G6PC and GCKR manifests as hepatic glucose intolerance or insulin resistance. 23022226 2013
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia
0.010 GeneticVariation disease BEFREE There was no significant difference in the genotype distribution between the control group and the cases with SH for any of the investigated polymorphisms (OR and 95% confidence intervals - 0.90 (0.59-1.38) for GCKR; 1.11 (0.67-1.85) for GIPR; 0.75 (0.48-1.17) for ADCY5; 1.43 (0.95-2.15) for VPS13C; all P-values >0.05). 22956255 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.010 GeneticVariation disease BEFREE In a multivariate-adjusted model, a significant association was observed only for rs780094 in the glucokinase regulator (GCKR) gene: odds ratios for pancreatic cancer were 1.00 for TT, 1.35 (95% CI, 0.71-2.58) for CT, and 2.14 (95% CI, 1.12-4.08) for CC genotypes (P trend = 0.01) and did not change after the adjustment for diabetes. 22015968 2012
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.010 GeneticVariation disease BEFREE In a multivariate-adjusted model, a significant association was observed only for rs780094 in the glucokinase regulator (GCKR) gene: odds ratios for pancreatic cancer were 1.00 for TT, 1.35 (95% CI, 0.71-2.58) for CT, and 2.14 (95% CI, 1.12-4.08) for CC genotypes (P trend = 0.01) and did not change after the adjustment for diabetes. 22015968 2012
CUI: C1960636
Disease: Dysglycemia
Dysglycemia
0.010 GeneticVariation disease BEFREE 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. 22517333 2012