Gene: GCKR
Alternate names for this Gene: FGQTL5|GKRP
Gene Summary: This gene encodes a protein belonging to the GCKR subfamily of the SIS (Sugar ISomerase) family of proteins. The gene product is a regulatory protein that inhibits glucokinase in liver and pancreatic islet cells by binding non-covalently to form an inactive complex with the enzyme. This gene is considered a susceptibility gene candidate for a form of maturity-onset diabetes of the young (MODY).
Gene is located in Chromosome: 2
Location in Chromosome : 2p23.3
Description of this Gene: glucokinase regulator
Type of Gene: protein-coding
rs780094 in
GCKR gene and
Alcohol consumption
PMID 28485404 2017 Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study.
rs1260326 in
GCKR gene and
Alcohol-Induced Disorders
PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
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GCKR gene and
Alcohol-Related Disorders
PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
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GCKR gene and
Alcoholic Intoxication, Chronic
PMID 30940813 2019 Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations.
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GCKR gene and
Amino acids measurement
PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.
PMID 27898682 2016 Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.
rs1260326 in
GCKR gene and
Ankylosing spondylitis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
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GCKR gene and
Arthritis, Gouty
PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
PMID 25646370 2016 Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
rs780094 in
GCKR gene and
Atrial Fibrillation
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Biliary calculi
PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
PMID 27094239 2016 Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies.
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GCKR gene and
Blood Pressure
PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
rs1260326 in
GCKR gene and
Blood Protein Measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1260326 in
GCKR gene and
Blood basophil count (lab test)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1260326 in
GCKR gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.
PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.
rs780094 in
GCKR gene and
Body mass index
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
rs780094 in
GCKR gene and
Body mass index procedure
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
rs780096 in
GCKR gene and
Bone Density
PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.
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GCKR gene and
C-reactive protein measurement
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 23505291 2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.
PMID 21300955 2011 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 18439548 2008 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 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
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GCKR gene and
Calcification of coronary artery
PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
rs780094 in
GCKR gene and
Calcium level result
PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
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GCKR gene and
Calcium measurement
PMID 24068962 2013 Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
rs780093 in
GCKR gene and
Cardiovascular Diseases
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs780094 in
GCKR gene and
Cerebrovascular accident
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs6547692 in
GCKR gene and
Chloride measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
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GCKR gene and
Cholangitis, Sclerosing
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
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GCKR gene and
Chronic Kidney Diseases
PMID 22479191 2012 Genome-wide association and functional follow-up reveals new loci for kidney function.
PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.
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GCKR gene and
Coronary heart disease
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Creatinine measurement, serum (procedure)
PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.
PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
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GCKR gene and
Crohn Disease
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
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GCKR gene and
Diabetes
PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Diabetes Mellitus
PMID 31511532 2019 Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.
PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.
PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
rs780094 in
GCKR gene and
Diastolic blood pressure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Eosinophil count procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
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GCKR gene and
Estradiol level result
PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
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GCKR gene and
Estradiol measurement
PMID 22829776 2012 A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
rs146175795 in
GCKR gene and
FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5
PMID 22182842 2012 Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes.
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GCKR gene and
Factor VII measurement
PMID 30642921 2019 A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology.
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GCKR gene and
Fasting blood glucose measurement
PMID 31021400 2019 Pleiotropy informed adaptive association test of multiple traits using genome-wide association study summary data.
PMID 23903356 2013 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
PMID 25625282 2015 Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 25631608 2015 Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.
PMID 25187374 2015 Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
PMID 20081858 2010 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
PMID 29743933 2018 Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.
rs1260326 in
GCKR gene and
Fasting blood sugar result
PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
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GCKR gene and
Fatty acid measurement
PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
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GCKR gene and
Finding of body mass index
PMID 22581228 2012 A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
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GCKR gene and
Glomerular Filtration Rate
PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.
PMID 27588450 2016 Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.
PMID 23535967 2013 Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.
PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.
PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.
rs1260326 in
GCKR gene and
Glucose measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 21886157 2011 Human metabolic individuality in biomedical and pharmaceutical research.
PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs1260326 in
GCKR gene and
Glucose tolerance test
PMID 20081857 2010 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
PMID 29743933 2018 Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits.
rs11681351 in
GCKR gene and
Gout
PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
PMID 20884846 2010 Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors.
PMID 25646370 2016 Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
PMID 21768215 2011 Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.
PMID 27899376 2017 GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
rs1260326 in
GCKR gene and
Granulocyte count
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs780094 in
GCKR gene and
Heart failure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs780094 in
GCKR gene and
Height
PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
rs1260326 in
GCKR gene and
Hematocrit procedure
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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GCKR gene and
Hepatitis B
PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.
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GCKR gene and
High density lipoprotein measurement
PMID 18454146 2008 Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs1260326 in
GCKR gene and
Hypertriglyceridemia
PMID 20657596 2010 Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
PMID 27599772 2017 A common variant association study in ethnic Saudi Arabs reveals novel susceptibility loci for hypertriglyceridemia.
rs1260326 in
GCKR gene and
Inflammatory Bowel Diseases
PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
rs1260326 in
GCKR gene and
Insulin C-peptide measurement
PMID 23903356 2013 Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
rs1260326 in
GCKR gene and
Kidney Failure, Chronic
PMID 20383146 2010 New loci associated with kidney function and chronic kidney disease.
PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.
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GCKR gene and
Lactic acid measurement
PMID 26433129 2016 GCKR and PPP1R3B identified as genome-wide significant loci for plasma lactate: the Atherosclerosis Risk in Communities (ARIC) study.
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GCKR gene and
Lean body mass
PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.
rs780093 in
GCKR gene and
Leptin measurement
PMID 26833098 2016 Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels.
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GCKR gene and
Lipids measurement
PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
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GCKR gene and
Low density lipoprotein cholesterol measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
rs1260326 in
GCKR gene and
Lymphocyte Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
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GCKR gene and
Malignant Neoplasms
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs2293571 in
GCKR gene and
Metabolic Syndrome X
PMID 30382898 2018 Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.
PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
PMID 22399527 2012 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.
PMID 29632305 2018 New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.
rs1260326 in
GCKR gene and
Neutrophil count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
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GCKR gene and
Non-alcoholic Fatty Liver Disease
PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.
rs1260326 in
GCKR gene and
Phospholipid measurement
PMID 21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
PMID 23362303 2013 Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.
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GCKR gene and
Platelet Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1260326 in
GCKR gene and
Protein C antigen measurement
PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).
PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
rs1260326 in
GCKR gene and
Protein C measurement
PMID 28082259 2017 Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).
PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
rs1260326 in
GCKR gene and
Protein measurement
PMID 27005778 2016 Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.
rs1260326 in
GCKR gene and
Pseudocholinesterase Measurement
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
rs1260326 in
GCKR gene and
Psoriasis
PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.
rs1260326 in
GCKR gene and
RDW - Red blood cell distribution width result
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1260326 in
GCKR gene and
RESTING HEART RATE
PMID 29769521 2018 Thirty loci identified for heart rate response to exercise and recovery implicate autonomic nervous system.
PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.
rs780094 in
GCKR gene and
Red Blood Cell Count measurement
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs1260326 in
GCKR gene and
Red cell distribution width determination
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs1260326 in
GCKR gene and
Reticulocyte count (procedure)
PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
rs780094 in
GCKR gene and
Serum LDL cholesterol measurement
PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
rs1260326 in
GCKR gene and
Serum albumin level
PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
rs1260326 in
GCKR gene and
Serum albumin measurement
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 22558069 2012 Association of common variants in TNFRSF13B, TNFSF13, and ANXA3 with serum levels of non-albumin protein and immunoglobulin isotypes in Japanese.
PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
rs1260326 in
GCKR gene and
Serum gamma-glutamyl transferase measurement
PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1260326 in
GCKR gene and
Serum total cholesterol measurement
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.
rs1260326 in
GCKR gene and
Serum total protein measurement
PMID 23022100 2012 Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
rs780093 in
GCKR gene and
Sex hormone binding globulin measurement
PMID 22829776 2012 Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8 × 10(-106)), PRMT6 (rs17496332, 1p13.3, p = 1.4 × 10(-11)), GCKR (rs780093, 2p23.3, p = 2.2 × 10(-16)), ZBTB10 (rs440837, 8q21.13, p = 3.4 × 10(-09)), JMJD1C (rs7910927, 10q21.3, p = 6.1 × 10(-35)), SLCO1B1 (rs4149056, 12p12.1, p = 1.9 × 10(-08)), NR2F2 (rs8023580, 15q26.2, p = 8.3 × 10(-12)), ZNF652 (rs2411984, 17q21.32, p = 3.5 × 10(-14)), TDGF3 (rs1573036, Xq22.3, p = 4.1 × 10(-14)), LHCGR (rs10454142, 2p16.3, p = 1.3 × 10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p = 2.7 × 10(-08)), and UGT2B15 (rs293428, 4q13.2, p = 5.5 × 10(-06)).
rs1260326 in
GCKR gene and
Sodium measurement
PMID 31409800 2019 GWAS for urinary sodium and potassium excretion highlights pathways shared with cardiovascular traits.
rs780094 in
GCKR gene and
Systolic Pressure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs11681351 in
GCKR gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 30911093 2019 Genome-wide association study of blood lipids in Indians confirms universality of established variants.
PMID 18454146 2008 Common genetic variation near MC4R is associated with waist circumference and insulin resistance.
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elevated blood glucose level
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