Rs3135506

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Orientationplus
Geno Mag Summary
(G;C)
(G;G) 0 common on affy axiom data
Make rs3135506(C;C)
Make rs3135506(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position116791691
GeneAPOA5
is asnp
is mentioned by
dbSNPrs3135506
Exacrs3135506
PheGenIrs3135506
nextbiors3135506
hapmaprs3135506
1000 genomesrs3135506
hgdprs3135506
ensemblrs3135506
gopubmedrs3135506
geneviewrs3135506
scholarrs3135506
googlers3135506
pharmgkbrs3135506
gwascentralrs3135506
openSNPrs3135506
23andMers3135506
23andMe allrs3135506
SNP Nexus

SNPshotrs3135506
SNPdbers3135506
MSV3drs3135506
Merged fromRs28939090
GMAF0.04591
Max Magnitude0
Rs3135506 (also known as S19W) is associated with severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched normolipidemic controls.

It is discussed in [PMID 17211608]; however, the SNP that prevents weight gain from high fat diets is rs662799.

Neighborrs28939090
Distance1
[PMID 19629056OA-icon.png] Apolipoprotein A5 and Lipoprotein Lipase Interact to Modulate Anthropometric Measures in Hispanics of Caribbean Origin


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


? (C;C) (C;G) (G;G)
OMIM606368
Desc
Variant0002
Relatedalso
[PMID 22425169OA-icon.png] Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.


ClinVar
Risk rs3135506(C;C)
Alt rs3135506(C;C)
Reference rs3135506(G;G)
Significance Other
Disease Hypertriglyceridemia
Variation info
Gene APOA5
CLNDBN Hypertriglyceridemia, susceptibility to
Reversed 0
HGVS NC_000011.9:g.116662407G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004653.1,



[PMID 17357083OA-icon.png] Medical sequencing at the extremes of human body mass.


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


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


[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.


[PMID 18660489] Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.


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


[PMID 18801202OA-icon.png] Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease.


[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.


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


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


[PMID 19878569OA-icon.png] Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.


[PMID 19910639OA-icon.png] Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.


[PMID 20406163] Fenofibrate and metabolic syndrome.


[PMID 21671989OA-icon.png] Dosing equation for tacrolimus using genetic variants and clinical factors.


GET Evidence
APOA5-S19W
aa_change Ser19Trp
aa_change_short S19W
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0646151
summary This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.



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


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


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