{{Rsnum
|rsid=3135506
|Gene=APOA5
|Chromosome=11
|position=116791691
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.04591
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=APOA5
}}[[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 [http://www.medicalnewstoday.com/medicalnews.php?newsid=67543 weight gain from high fat diets] is [[rs662799]].

{{ neighbor
| rsid = 28939090
| distance = 1
}}

{{PMID Auto
|PMID=19629056
|Title=Apolipoprotein A5 and Lipoprotein Lipase Interact to Modulate Anthropometric Measures in Hispanics of Caribbean Origin
|OA=1
}}

{{PMID Auto
|PMID=20395964
|Title=Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins
}}
{{PMID Auto
|PMID=20429872
|Title=Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
|OA=1
}}

{{PMID Auto
|PMID=20883102
|Title=Haplotype analysis of the apolipoprotein A5 gene in obese pediatric patients
}}

{{PharmGKB
|RSID=rs3135506
|Name_s=
|Gene_s=APOA5, ZNF259
|Feature=
|Evidence=PubMed ID:19802338
|Annotation=Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of triglycerides and apolipoprotein B. Study size:6382. Study population/ethnicity: Caucasian women. Significance metric(s): triglycerides: p = 5.5 x 10(-12); ApoB: p = 8.4 x 10(-8). Type of association: CO; GN
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165146125
}}

{{ population diversity
| geno1 = (C;C)
| geno2 = (C;G)
| geno3 = (G;G)
| CEU | 0.0 | 11.7 | 88.3
| CHB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 1.7 | 6.7 | 91.7
}}
{{omim
|id=606368
|rsnum=3135506
|variant=0002
}}

{{PMID Auto
|PMID=22425169
|Title=Vitamin D dependent effects of APOA5 polymorphisms on HDL cholesterol.
|OA=1
}}

{{ClinVar
|rsid=3135506
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=116662407
|CHROM=11
|GMAF=0.0458
|dbSNPBuildID=103
|SSR=0
|SAO=1
|VP=0x050168000000150516130100
|GENEINFO=APOA5:116519
|GENE_NAME=APOA5
|GENE_ID=116519
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.116662407G>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;MTP;OM
|CAF=0.9541; 0.04591
|CLNACC=RCV000004653.1
|CLNDBN=Hypertriglyceridemia, susceptibility to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=606368.0002
|COMMON=1
|Disease=Hypertriglyceridemia
}}

{{PMID Auto
|PMID=17357083
|Title=Medical sequencing at the extremes of human body mass.
|OA=1
}}

{{PMID Auto
|PMID=17903299
|Title=A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=18441017
|Title=An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.
|OA=1
}}

{{PMID Auto
|PMID=18596051
|Title=Polygenic determinants of severe hypertriglyceridemia.
}}

{{PMID Auto
|PMID=18660489
|Title=Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
}}

{{PMID Auto
|PMID=18789138
|Title=The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides.
|OA=1
}}

{{PMID Auto
|PMID=18801202
|Title=Genetic studies on the APOA1-C3-A5 gene cluster in Asian Indians with premature coronary artery disease.
|OA=1
}}

{{PMID Auto
|PMID=18974842
|Title=Gender differences in genetic risk profiles for cardiovascular disease.
|OA=1
}}

{{PMID Auto
|PMID=19018513
|Title=The association of common genetic variants in the APOA5, LPL and GCK genes with longitudinal changes in metabolic and cardiovascular traits.
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=19056598
|Title=Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states.
|OA=1
}}

{{PMID Auto
|PMID=19057464
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19148283
|Title=Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=19185284
|Title=Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19435741
|Title=Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
|OA=1
}}

{{PMID Auto
|PMID=19787382
|Title=Introduction to the DISRUPT postprandial database: subjects, studies and methodologies.
|OA=1
}}

{{PMID Auto
|PMID=19878569
|Title=Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis.
|OA=1
}}

{{PMID Auto
|PMID=19910639
|Title=Genetic association and interaction analysis of USF1 and APOA5 on lipid levels and atherosclerosis.
|OA=1
}}

{{PMID Auto
|PMID=20406163
|Title=Fenofibrate and metabolic syndrome.
}}

{{PMID Auto
|PMID=21671989
|Title=Dosing equation for tacrolimus using genetic variants and clinical factors.
|OA=1
}}

{{GET Evidence
|gene=APOA5
|aa_change=Ser19Trp
|aa_change_short=S19W
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3135506
|overall_frequency_n=695
|overall_frequency_d=10756
|overall_frequency=0.0646151
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=5
|n_articles_annotated=5
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=0
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=3
|in_omim=Y
|in_pharmgkb=Y
|pph2_score=0.778
|nblosum100=7
|autoscore=2
|webscore=N
|variant_evidence=0
|clinical_importance=1
|summary_short=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 Auto
|PMID=23065249
|Title=Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}