Gene: APOA5

Alternate names for this Gene: APOAV|RAP3

Gene Summary: The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: apolipoprotein A5

Type of Gene: protein-coding

rs651821 in APOA5 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs651821 in APOA5 gene and Corpuscular Hemoglobin Concentration Mean PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs651821 in APOA5 gene and Hematocrit procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs10750097 in APOA5 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 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 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 28371326 2017 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

PMID 29212154 2017 Moreover, we identified the effect of <i>APOA5</i> rs662799 on triglyceride and HDL, the effect of rs1106475 in the actin filament associated protein 1 like 2 (<i>AFAP1L2</i>) gene on systolic blood pressure, and the effect of rs17667932 in the mediator complex subunit 30 (<i>MED30</i>) gene on fasting glucose.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

rs651821 in APOA5 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs651821 in APOA5 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs651821 in APOA5 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs651821 in APOA5 gene and Metabolic Syndrome X PMID 28371326 2017 Notably, by an integrated analysis of the genotypes and the serum levels of APOA5, BUD13 and triglyceride, we observed that BUD13 was another potential mediator, besides APOA5, of the association between rs651821 and serum triglyceride. rs671 (ALDH2), an east Asian-specific common variant, was found to be associated with MetS (P<sub>combined</sub> = 9.7 × 10<sup>-22</sup> ) in Han Chinese.

rs662799 in APOA5 gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs651821 in APOA5 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs10750097 in APOA5 gene and Serum HDL cholesterol 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 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

rs10750097 in APOA5 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs10750097 in APOA5 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 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 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

rs10750097 in APOA5 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 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 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 28371326 2017 Susceptibility loci for metabolic syndrome and metabolic components identified in Han Chinese: a multi-stage genome-wide association study.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 26763881 2016 Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22171074 2012 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.

PMID 29404214 2018 Gene-based association study for lipid traits in diverse cohorts implicates BACE1 and SIDT2 regulation in triglyceride levels.

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 29212154 2017 Detection of susceptibility loci on APOA5 and COLEC12 associated with metabolic syndrome using a genome-wide association study in a Taiwanese population.

PMID 24023260 2013 Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.

PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.