Gene "APOC3"
Found 24 records
Gene information
Gene symbol:
APOC3
See related:
Ensembl: ENSG00000110245, Gene ID: 345
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
24 
Disorder:
3 
Vriant:
9 
Reference:
4 
Effect type:
Expressivity(24)  
Modifier effect:
Altered triglyceride level(8) ,Risk factor(8) ,Altered circulating level(4) ,Altered gene acitvity(2) ,Altered severity(2)  
Details：
  • Variant 1:
    APOC3:R19X
    Gene:
    APOC3
    Genomic location:
    chr11:116701353
    dbSNP ID:
    rs76353203
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 2:
    APOC3:R19X
    Gene:
    APOC3
    Genomic location:
    chr11:116701353
    dbSNP ID:
    rs76353203
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered circulating level 
    Evidence:
    P=8×10(-10) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 3:
    APOC3:R19X
    Gene:
    APOC3
    Genomic location:
    chr11:116701353
    dbSNP ID:
    rs76353203
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<1×10(-20) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 4:
    APOC3:R19X
    Gene:
    APOC3
    Genomic location:
    chr11:116701353
    dbSNP ID:
    rs76353203
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.64; 95% CI: 0.41 to 0.99; P=0.04 
    Effect:
    The cumulative incidences of ischemic vascular disease and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 mutations (P=0.009 and P=0.05, respectively), with corresponding risk reductions of 41% (hazard ratio, 0.59; 95% CI, 0.41 to 0.86; P=0.007) and 36% (hazard ratio, 0.64; 95% CI, 0.41 to 0.99; P=0.04)
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 5:
    APOC3:R19X
    Gene:
    APOC3
    Genomic location:
    chr11:116701353
    dbSNP ID:
    rs76353203
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<0.001 
    Effect:
    Heterozygosity for loss-of-function mutations in APOC3, as compared with no APOC3 mutations, was associated with a mean reduction in nonfasting triglyceride levels of 44% (P<0.001).
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 6:
    APOC3:c.T-455C
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Nonalcoholic Fatty Liver Disease(DOID_0080208)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene acitvity 
    Evidence:
    From review article 
    Effect:
    Two common ApoC3 T-455C and C-482T promoter SNPs, which hamper the regulation of apolipoprotein C3 expression by insulin signalling via FOXO1 phosphorylation
    Reference:
    PMID23394097
    Title:
    Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.
    Species studied:
    Human
    Abstract:
    Liver fat deposition related to systemic insulin resistance defines non-alcoholic fatty liver disease (NAFLD) which, when associated with oxidative hepatocellular damage, inflammation, and activation of fibrogenesis, i.e. non-alcoholic steatohepatitis (NASH), can progress towards cirrhosis and hepatocellular carcinoma. Due to the epidemic of obesity, NAFLD is now the most frequent liver disease and the leading cause of altered liver enzymes in Western countries. Epidemiological, familial, and twin studies provide evidence for an element of heritability of NAFLD. Genetic modifiers of disease severity and progression have been identified through genome-wide association studies. These include the Patatin-like phosholipase domain-containing 3 (PNPLA3) gene variant I148M as a major determinant of inter-individual and ethnicity-related differences in hepatic fat content independent of insulin resistance and serum lipid concentration. Association studies confirm that the I148M polymorphism is also a strong modifier of NASH and progressive hepatic injury. Furthermore, a few large multicentre case-control studies have demonstrated a role for genetic variants implicated in insulin signalling, oxidative stress, and fibrogenesis in the progression of NAFLD towards fibrosing NASH, and confirm that hepatocellular fat accumulation and insulin resistance are key operative mechanisms closely involved in the progression of liver damage. It is now important to explore the molecular mechanisms underlying these associations between gene variants and progressive liver disease, and to evaluate their impact on the response to available therapies. It is hoped that this knowledge will offer further insights into pathogenesis, suggest novel therapeutic targets, and could help guide physicians towards individualised therapy that improves clinical outcome.
  • Variant 7:
    APOC3:c.IVS3+1G>T
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 8:
    APOC3:c.IVS3+1G>T
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered circulating level 
    Evidence:
    P=8×10(-10) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 9:
    APOC3:c.IVS3+1G>T
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<1×10(-20) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 10:
    APOC3:c.IVS2+1G>A
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 11:
    APOC3:c.IVS2+1G>A
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered circulating level 
    Evidence:
    P=8×10(-10) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 12:
    APOC3:c.IVS2+1G>A
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<1×10(-20) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 13:
    APOC3:c.IVS2+1G>A
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.64; 95% CI: 0.41 to 0.99; P=0.04 
    Effect:
    The cumulative incidences of ischemic vascular disease and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 mutations (P=0.009 and P=0.05, respectively), with corresponding risk reductions of 41% (hazard ratio, 0.59; 95% CI, 0.41 to 0.86; P=0.007) and 36% (hazard ratio, 0.64; 95% CI, 0.41 to 0.99; P=0.04)
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 14:
    APOC3:c.IVS2+1G>A
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<0.001 
    Effect:
    Heterozygosity for loss-of-function mutations in APOC3, as compared with no APOC3 mutations, was associated with a mean reduction in nonfasting triglyceride levels of 44% (P<0.001).
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 15:
    APOC3:c.148G>T(p.Val50Leu)
    Gene:
    APOC3
    Genomic location:
    chr11:116701581
    dbSNP ID:
    rs201803883
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.64; 95% CI: 0.41 to 0.99; P=0.04 
    Effect:
    The cumulative incidences of ischemic vascular disease and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 mutations (P=0.009 and P=0.05, respectively), with corresponding risk reductions of 41% (hazard ratio, 0.59; 95% CI, 0.41 to 0.86; P=0.007) and 36% (hazard ratio, 0.64; 95% CI, 0.41 to 0.99; P=0.04)
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 16:
    APOC3:c.148G>T(p.Val50Leu)
    Gene:
    APOC3
    Genomic location:
    chr11:116701581
    dbSNP ID:
    rs201803883
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<0.001 
    Effect:
    Heterozygosity for loss-of-function mutations in APOC3, as compared with no APOC3 mutations, was associated with a mean reduction in nonfasting triglyceride levels of 44% (P<0.001).
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 17:
    APOC3:c.-528T>C
    Gene:
    APOC3
    Genomic location:
    chr11:116700142
    dbSNP ID:
    rs2854117
    Target disease:
    Nonalcoholic Fatty Liver Disease(DOID_0080208)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.003 
    Effect:
    Associated with the development NAFLD or disease severity.
    Reference:
    PMID26740948
    Title:
    Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
    Species studied:
    Human
    Abstract:
    We explored potential genetic risk factors implicated in nonalcoholic fatty liver disease (NAFLD) within a Caribbean-Hispanic population in New York City. A total of 316 individuals including 40 subjects with biopsy-proven NAFLD, 24 ethnically matched non-NAFLD controls, and a 252 ethnically mixed random sampling of Bronx County, New York were analyzed. Genotype analysis was performed to determine allelic frequencies of 74 known single-nucleotide polymorphisms (SNPs) associated with NAFLD risk based on previous genome-wide association study (GWAS) and candidate gene studies. Additionally, the entire coding region of PNPLA3, a gene showing the strongest association to NAFLD was subjected to Sanger sequencing. Results suggest that both rare and common DNA variations in PNPLA3 and SAMM50 may be correlated with NAFLD in this small population study, while common DNA variations in CHUK and ERLIN1, may have a protective interaction. Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty liver, but with less compelling significance. In conclusion, Hispanic patients of Caribbean ancestry may have different interactions with NAFLD genetic modifiers; therefore, further investigation with a larger sample size, into this Caribbean-Hispanic population is warranted.
  • Variant 18:
    APOC3:c.-501C>T
    Gene:
    APOC3
    Genomic location:
    chr11:116700169
    dbSNP ID:
    rs2854116
    Target disease:
    Nonalcoholic Fatty Liver Disease(DOID_0080208)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.02 
    Effect:
    Associated with the development NAFLD or disease severity.
    Reference:
    PMID26740948
    Title:
    Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.
    Species studied:
    Human
    Abstract:
    We explored potential genetic risk factors implicated in nonalcoholic fatty liver disease (NAFLD) within a Caribbean-Hispanic population in New York City. A total of 316 individuals including 40 subjects with biopsy-proven NAFLD, 24 ethnically matched non-NAFLD controls, and a 252 ethnically mixed random sampling of Bronx County, New York were analyzed. Genotype analysis was performed to determine allelic frequencies of 74 known single-nucleotide polymorphisms (SNPs) associated with NAFLD risk based on previous genome-wide association study (GWAS) and candidate gene studies. Additionally, the entire coding region of PNPLA3, a gene showing the strongest association to NAFLD was subjected to Sanger sequencing. Results suggest that both rare and common DNA variations in PNPLA3 and SAMM50 may be correlated with NAFLD in this small population study, while common DNA variations in CHUK and ERLIN1, may have a protective interaction. Common SNPs in ENPP1 and ABCC2 have suggestive association with fatty liver, but with less compelling significance. In conclusion, Hispanic patients of Caribbean ancestry may have different interactions with NAFLD genetic modifiers; therefore, further investigation with a larger sample size, into this Caribbean-Hispanic population is warranted.
  • Variant 19:
    APOC3:c.-482C>T
    Gene:
    APOC3
    Genomic location:
    dbSNP ID:
    Target disease:
    Nonalcoholic Fatty Liver Disease(DOID_0080208)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered gene acitvity 
    Evidence:
    From review article 
    Effect:
    Two common ApoC3 T-455C and C-482T promoter SNPs, which hamper the regulation of apolipoprotein C3 expression by insulin signalling via FOXO1 phosphorylation
    Reference:
    PMID23394097
    Title:
    Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.
    Species studied:
    Human
    Abstract:
    Liver fat deposition related to systemic insulin resistance defines non-alcoholic fatty liver disease (NAFLD) which, when associated with oxidative hepatocellular damage, inflammation, and activation of fibrogenesis, i.e. non-alcoholic steatohepatitis (NASH), can progress towards cirrhosis and hepatocellular carcinoma. Due to the epidemic of obesity, NAFLD is now the most frequent liver disease and the leading cause of altered liver enzymes in Western countries. Epidemiological, familial, and twin studies provide evidence for an element of heritability of NAFLD. Genetic modifiers of disease severity and progression have been identified through genome-wide association studies. These include the Patatin-like phosholipase domain-containing 3 (PNPLA3) gene variant I148M as a major determinant of inter-individual and ethnicity-related differences in hepatic fat content independent of insulin resistance and serum lipid concentration. Association studies confirm that the I148M polymorphism is also a strong modifier of NASH and progressive hepatic injury. Furthermore, a few large multicentre case-control studies have demonstrated a role for genetic variants implicated in insulin signalling, oxidative stress, and fibrogenesis in the progression of NAFLD towards fibrosing NASH, and confirm that hepatocellular fat accumulation and insulin resistance are key operative mechanisms closely involved in the progression of liver damage. It is now important to explore the molecular mechanisms underlying these associations between gene variants and progressive liver disease, and to evaluate their impact on the response to available therapies. It is hoped that this knowledge will offer further insights into pathogenesis, suggest novel therapeutic targets, and could help guide physicians towards individualised therapy that improves clinical outcome.
  • Variant 20:
    APOC3:A43T
    Gene:
    APOC3
    Genomic location:
    chr11:116701560
    dbSNP ID:
    rs147210663
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.60; 95% CI: 0.47 to 0.75; P=4×10(-6) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 21:
    APOC3:A43T
    Gene:
    APOC3
    Genomic location:
    chr11:116701560
    dbSNP ID:
    rs147210663
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered circulating level 
    Evidence:
    P=8×10(-10) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 22:
    APOC3:A43T
    Gene:
    APOC3
    Genomic location:
    chr11:116701560
    dbSNP ID:
    rs147210663
    Target disease:
    Coronary Artery Disease(DOID_3393)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<1×10(-20) 
    Effect:
    Carriers of these mutations were found to have a reduced risk of coronary heart disease.
    Reference:
    PMID24941081
    Title:
    Loss-of-function mutations in APOC3, triglycerides, and coronary disease.
    Species studied:
    Human
    Abstract:
    Plasma triglyceride levels are heritable and are correlated with the risk of coronary heart disease. Sequencing of the protein-coding regions of the human genome (the exome) has the potential to identify rare mutations that have a large effect on phenotype.
  • Variant 23:
    APOC3:A43T
    Gene:
    APOC3
    Genomic location:
    chr11:116701560
    dbSNP ID:
    rs147210663
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    HR=0.64; 95% CI: 0.41 to 0.99; P=0.04 
    Effect:
    The cumulative incidences of ischemic vascular disease and ischemic heart disease were reduced in heterozygotes as compared with noncarriers of APOC3 mutations (P=0.009 and P=0.05, respectively), with corresponding risk reductions of 41% (hazard ratio, 0.59; 95% CI, 0.41 to 0.86; P=0.007) and 36% (hazard ratio, 0.64; 95% CI, 0.41 to 0.99; P=0.04)
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.
  • Variant 24:
    APOC3:A43T
    Gene:
    APOC3
    Genomic location:
    chr11:116701560
    dbSNP ID:
    rs147210663
    Target disease:
    Ischemic Heart Disease(NCIT_C50625)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered triglyceride level 
    Evidence:
    P<0.001 
    Effect:
    Heterozygosity for loss-of-function mutations in APOC3, as compared with no APOC3 mutations, was associated with a mean reduction in nonfasting triglyceride levels of 44% (P<0.001).
    Reference:
    PMID24941082
    Title:
    Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.
    Species studied:
    Human
    Abstract:
    High plasma levels of nonfasting triglycerides are associated with an increased risk of ischemic cardiovascular disease. Whether lifelong low levels of nonfasting triglycerides owing to mutations in the gene encoding apolipoprotein C3 (APOC3) are associated with a reduced risk of ischemic cardiovascular disease in the general population is unknown.