{{Rsnum
|rsid=328
|Gene=LPL
|Chromosome=8
|position=19962213
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.09642
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=LPL
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 75.4 | 23.1 | 1.5
| HCB | 82.2 | 17.8 | 0.0
| JPT | 72.7 | 25.0 | 2.3
| YRI | 92.1 | 7.9 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 82.2 | 17.8 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=18193044
|Trait=HDL cholesterol
|Title=Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
|RiskAllele=G
|Pval=8.9999999999999995E-23
|OR=0.17
|ORtxt=[0.13-0.21]% SD higher
|OA=1
}}
{{PMID Auto GWAS
|PMID=17463246
|Trait=Triglycerides
|Title=Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|RiskAllele=T
|Pval=4.9999999999999998E-7
|OR=1.00
|ORtxt=% [NR] of variance explained
}}

{{omim
|desc=LIPOPROTEIN LIPASE; LPL
|id=609708
|rsnum=328
}}

{{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=19773416
|Title=A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women
|OA=1
}}

{{PharmGKB
|RSID=rs328
|Name_s=
|Gene_s=LPL
|Feature=
|Evidence=PubMed ID:19802338
|Annotation=Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of triglycerides. Study size:6382. Study population/ethnicity: Caucasian women. Significance metric(s): P = 4.7 x 10(-11). Type of association: CO; GN
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165111809
}}

{{PMID Auto GWAS
|PMID=22171074
|Trait=None
|Title=A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
|RiskAllele=
|Pval=1E-9
|OR=None
|ORtxt=None
}}

{{ClinVar
|rsid=328
|Reversed=0
|FwdREF=C
|FwdALT=G
|REF=C
|ALT=G
|RSPOS=19819724
|CHROM=8
|GMAF=0.0962
|dbSNPBuildID=36
|SSR=0
|SAO=1
|VP=0x05016800000015051f130101
|GENEINFO=LPL:4023
|GENE_NAME=LPL
|GENE_ID=4023
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.19819724C>G
|CLNORIGIN=1
|CLNSIG=2
|Tags=PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9036; 0.09642
|CLNACC=RCV000001598.1
|CLNDBN=LIPOPROTEIN LIPASE POLYMORPHISM
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=609708.0014
|COMMON=1
|Disease=LIPOPROTEIN LIPASE POLYMORPHISM
}}

{{PMID Auto
|PMID=16642433
|Title=Polymorphism in maternal LRP8 gene is associated with fetal growth.
|OA=1
}}

{{PMID Auto
|PMID=16700901
|Title=Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.
|OA=1
}}

{{PMID Auto
|PMID=17157861
|Title=Associations between HDL-cholesterol and polymorphisms in hepatic lipase and lipoprotein lipase genes are modified by dietary fat intake in African American and White adults.
|OA=1
}}

{{PMID Auto
|PMID=17291198
|Title=The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease.
}}

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

{{PMID Auto
|PMID=18275964
|Title=Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.
|OA=1
}}

{{PMID Auto
|PMID=18280754
|Title=Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.
|OA=1
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|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=18678614
|Title=Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.
|OA=1
}}

{{PMID Auto
|PMID=18922999
|Title=Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
}}

{{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=19060910
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|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=19197348
|Title=Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
|OA=1
}}

{{PMID Auto
|PMID=19200524
|Title=A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.
|OA=1
}}

{{PMID Auto
|PMID=19263529
|Title=Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
|OA=1
}}

{{PMID Auto
|PMID=19299407
|Title=Replication of genetic associations with plasma lipoprotein traits in a multiethnic sample.
|OA=1
}}

{{PMID Auto
|PMID=19336475
|Title=Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
|OA=1
}}

{{PMID Auto
|PMID=19379518
|Title=Development of a fingerprinting panel using medically relevant polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19408013
|Title=Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
|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=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=19557453
|Title=beta-Carotene conversion products and their effects on adipose tissue.
|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=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20018036
|Title=Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.
|OA=1
}}

{{PMID Auto
|PMID=20018039
|Title=Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20150529
|Title=Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=21316679
|Title=Associations between common genetic polymorphisms in the liver X receptor alpha and its target genes with the serum HDL-cholesterol concentration in adolescents of the HELENA Study.
}}

{{PMID Auto
|PMID=21840003
|Title=Genetic variations at the lipoprotein lipase gene influence plasma lipid concentrations and interact with plasma n-6 polyunsaturated fatty acids to modulate lipid metabolism.
}}

{{GET Evidence
|gene=LPL
|aa_change=Ser474Stop
|aa_change_short=S474X
|impact=protective
|qualified_impact=Low clinical importance, Uncertain protective
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs328
|overall_frequency_n=909
|overall_frequency_d=10758
|overall_frequency=0.0844953
|n_genomes=15
|n_genomes_annotated=0
|n_haplomes=16
|n_articles=6
|n_articles_annotated=6
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=1
|qualitycomment_in_vitro=Y
|qualityscore_case_control=1
|qualitycomment_case_control=Y
|qualityscore_severity=1
|qualitycomment_severity=Y
|qualityscore_treatability=0
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_gwas=Y
|in_pharmgkb=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=10
|autoscore=5
|webscore=N
|n_web_uneval=6
|variant_evidence=0
|clinical_importance=0
|summary_short=This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation.
}}

{{PMID Auto GWAS
  |PMID=24386095
  |Trait=Lipid traits
  |Title=A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
  |RiskAllele=G
  |Pval=3E-10
  |OR=.07
  |ORtxt=[0.026-0.116] mmol/L decrease
  }}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}