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From SNPedia

Geno Mag Summary
(A;A) 0 normal
(A;G) 2 1.4x higher early heart attack risk; less weight gain on high fat diets
(G;G) 2 2x higher early heart attack risk; less weight gain on high fat diets
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs662799
23andMe allrs662799
SNP Nexus

GWAS Ctlgrs662799
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs662799 is a SNP in the APOA5 gene. The rarer rs662799(C) allele has been associated in multiple reports (cited below) to be associated with higher triglyceride levels.

Independently of triglyceride levels, perhaps, a study based on 1,864 Italian patients <45 years old at the time of their first heart attack (myocardial infarction) concluded that this SNP is associated with higher risk for an early heart attack, with a per C allele odds ratio of 1.44 (CI: 1.23-1.69, p = 6.7 × 10(-5)).[PMID 21130994]

This SNP has also been reported to help prevent weight gain from high fat diets.

[PMID 17211608] 1,073 men and 1,207 women participating in the Framingham Offspring Study rs662799 -1131T>C in modulates the effect of fat intake on BMI and obesity risk in both men and women. Individuals with at least one C allele gained significantly less weight on a high fat diet than those homozygous for the T allele.

[PMID 18596051] rs662799 (-1131T>C) influences severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched controls

[PMID 19732897] Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese

[PMID 20395964] Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

[PMID 20429872OA-icon.png] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study

[PMID 20571505OA-icon.png] A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

[PMID 20883102] Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients

[PMID 21130994] Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction

[PMID 21375366] Impact of apolipoprotein A5 (APOA5) polymorphisms on serum triglyceride levels in schizophrenic patients under long-term atypical antipsychotic treatment

[PMID 16670016OA-icon.png] Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

[PMID 17357073OA-icon.png] Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.

[PMID 17903299OA-icon.png] A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.

[PMID 18078817OA-icon.png] Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics.

[PMID 18196181OA-icon.png] Correction of population stratification in large multi-ethnic association studies.

[PMID 18441017OA-icon.png] An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.

[PMID 18789138OA-icon.png] The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides.

[PMID 19018513] The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.

[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19056598OA-icon.png] Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states.

[PMID 19057464OA-icon.png] Pharmacogenetic association of the APOA1/C3/A4/A5 gene cluster and lipid responses to fenofibrate: the genetics of lipid-lowering drugs and diet network study.

[PMID 19148283OA-icon.png] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.

[PMID 19185284OA-icon.png] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.

[PMID 19299407OA-icon.png] Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.

[PMID 19435741OA-icon.png] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.

[PMID 19656773OA-icon.png] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.

[PMID 19787382OA-icon.png] Introduction to the DISRUPT postprandial database: subjects, studies and methodologies.

[PMID 20406163] Fenofibrate and metabolic syndrome.

[PMID 20452521OA-icon.png] Triglyceride-mediated pathways and coronary disease: collaborative analysis of 101 studies.

[PMID 20570915] Genetic determinants of major blood lipids in Pakistanis compared with Europeans.

[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

[PMID 21054477] Association of a genetic variant in the apolipoprotein A5 gene with the metabolic syndrome in Chinese.

[PMID 21324458OA-icon.png] Association of gene variants with lipid levels in response to fenofibrate is influenced by metabolic syndrome status.

[PMID 21423763OA-icon.png] Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.

[PMID 21438666] Association of PON1 and APOA5 gene polymorphisms in a cohort of Indian patients having coronary artery disease with and without type 2 diabetes.

[PMID 22387725] Rapid genotyping of APOA5 -1131T>C polymorphism using high resolution melting analysis with unlabeled probes.

GET Evidence
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.898438
summary associated with the triglyceride levels and the risk of first heart attack

[PMID 23150898OA-icon.png] Evaluation of seven common lipid associated loci in a large Indian sib pair study

Response to Diet and Exercise

[PMID 23050023OA-icon.png] Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals

[PMID 22517333] 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.

[PMID 22576629] Synergistic effects of genetic variants of APOA5 and BTN2A1 on dyslipidemia or metabolic syndrome.

[PMID 22924697] Interactions between the apolipoprotein a1/c3/a5 haplotypes and alcohol consumption on serum lipid levels.

[PMID 23065249] Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke.

[PMID 23459084OA-icon.png] Central obesity in males affected by a dyslipidemia-associated genetic polymorphism on APOA1/C3/A4/A5 gene cluster.

[PMID 24402875] Genetic association of lipid metabolism related SNPs with myocardial infarction in the Pakistani population

GWAS snp
PMID [PMID 24023260OA-icon.png]
Trait Lipid traits
Title Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
Risk Allele A
P-val 6E-24
Odds Ratio .14 [0.12-0.16] unit decrease

[PMID 24462044OA-icon.png] The association between APOA5 haplotypes and plasma lipids is not modified by energy or fat intake: the Czech HAPIEE study

[PMID 25646961OA-icon.png] Identification of an Interaction between VWF rs7965413 and Platelet Count as a Novel Risk Marker for Metabolic Syndrome: An Extensive Search of Candidate Polymorphisms in a Case-Control Study

[PMID 26365620] Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men