Gene: APOC1
Alternate names for this Gene: Apo-CI|ApoC-I|apo-CIB|apoC-IB
Gene Summary: This gene encodes a member of the apolipoprotein C1 family. This gene is expressed primarily in the liver, and it is activated when monocytes differentiate into macrophages. The encoded protein plays a central role in high density lipoprotein (HDL) and very low density lipoprotein (VLDL) metabolism. This protein has also been shown to inhibit cholesteryl ester transfer protein in plasma. A pseudogene of this gene is located 4 kb downstream in the same orientation, on the same chromosome. This gene is mapped to chromosome 19, where it resides within a apolipoprotein gene cluster. Alternative splicing and the use of alternative promoters results in multiple transcript variants.
Gene is located in Chromosome: 19
Location in Chromosome : 19q13.32
Description of this Gene: apolipoprotein C1
Type of Gene: protein-coding
rs4420638 in
APOC1 gene and
Age related macular degeneration
PMID 23455636 2013 Seven new loci associated with age-related macular degeneration.
rs3925681 in
APOC1 gene and
Alzheimer's Disease
PMID 29777097 2018 GWAS on family history of Alzheimer's disease.
PMID 30636644 2019 Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities.
PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.
PMID 22832961 2012 Genome-wide association study of Alzheimer's disease.
PMID 17998437 2008 Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
PMID 19734903 2009 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
PMID 21460841 2011 Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
PMID 22005931 2012 Genome-wide association analysis of age-at-onset in Alzheimer's disease.
PMID 17975299 2008 Sorl1 as an Alzheimer's disease predisposition gene?
PMID 17474819 2007 A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.
PMID 28183528 2017 Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
PMID 23419831 2014 APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
rs445925 in
APOC1 gene and
Atherosclerosis
PMID 21909108 2011 Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
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APOC1 gene and
Atrial Fibrillation
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs12721052 in
APOC1 gene and
Blood Protein Measurement
PMID 29875488 2018 Genomic atlas of the human plasma proteome.
rs4420638 in
APOC1 gene and
Body mass index
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Body mass index procedure
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
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APOC1 gene and
C-reactive protein measurement
PMID 23505291 2013 Gene-centric analysis identifies variants associated with interleukin-6 levels and shared pathways with other inflammation markers.
PMID 23844046 2013 Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
PMID 21300955 2011 Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels.
PMID 21196492 2011 Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
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 19567438 2009 Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs445925 in
APOC1 gene and
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
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APOC1 gene and
Calcification of coronary artery
PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
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APOC1 gene and
Cardiovascular Diseases
PMID 18179892 2008 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.
rs4420638 in
APOC1 gene and
Cerebrovascular accident
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs4420638 in
APOC1 gene and
Cholesterol measurement test
PMID 17255346 2007 Lifecourse influences on health among British adults: effects of region of residence in childhood and adulthood.
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APOC1 gene and
Coronary Artery Disease
PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.
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APOC1 gene and
Coronary heart disease
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
rs4420638 in
APOC1 gene and
Diabetes
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Diabetes Mellitus
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Diabetes Mellitus, Non-Insulin-Dependent
PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.
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APOC1 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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APOC1 gene and
Finding of body mass index
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
rs4420638 in
APOC1 gene and
Glucose measurement
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Heart failure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Hematocrit procedure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
High density lipoprotein measurement
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
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 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related 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.
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APOC1 gene and
Longevity
PMID 21740922 2011 A genome-wide association study confirms APOE as the major gene influencing survival in long-lived individuals.
PMID 24688116 2014 Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
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APOC1 gene and
Low density lipoprotein cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 18802019 2008 Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.
PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 24023261 2013 THOC5: a novel gene involved in HDL-cholesterol metabolism.
PMID 25350695 2014 Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
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 21977987 2011 Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
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APOC1 gene and
Malignant Neoplasms
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
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APOC1 gene and
Memory performance
PMID 25648963 2015 Genome-wide studies of verbal declarative memory in nondemented older people: the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium.
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APOC1 gene and
Mental deterioration
PMID 22054870 2012 A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
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APOC1 gene and
Myocardial Infarction
PMID 26343387 2015 A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.
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APOC1 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.
PMID 20838585 2010 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
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APOC1 gene and
Psychomotor Performance
PMID 22054870 2012 A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
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APOC1 gene and
RDW - Red blood cell distribution width result
PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
rs12721051 in
APOC1 gene and
RESTING HEART RATE
PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.
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APOC1 gene and
Red cell distribution width determination
PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.
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APOC1 gene and
Serum HDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
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.
rs12721046 in
APOC1 gene and
Serum LDL cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 23100282 2013 Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study.
PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.
PMID 18802019 2008 Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.
PMID 21977987 2011 Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses.
rs12721046 in
APOC1 gene and
Serum albumin measurement
PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
rs12721046 in
APOC1 gene and
Serum total cholesterol measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.
PMID 19197348 2009 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 24023261 2013 THOC5: a novel gene involved in HDL-cholesterol metabolism.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
rs4420638 in
APOC1 gene and
Systolic Pressure
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
rs12721046 in
APOC1 gene and
Triglycerides measurement
PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.
PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.
PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.
PMID 19197348 2009 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.
rs4420638 in
APOC1 gene and
Waist-Hip Ratio
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.
rs4420638 in
APOC1 gene and
elevated blood glucose level
PMID 27790247 2016 Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases.