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From SNPedia

Geno Mag Summary
(C;C) 0 common in clinvar
Make rs328(C;G)
Make rs328(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs328
23andMe allrs328
SNP Nexus

GWAS Ctlgrs328
Max Magnitude0
? (C;C) (C;G) (G;G) 28
GWAS snp
PMID [PMID 18193044OA-icon.png]
Trait HDL cholesterol
Title Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
Risk Allele G
P-val 8.9999999999999995E-23
Odds Ratio 0.17 [0.13-0.21]% SD higher
GWAS snp
PMID [PMID 17463246]
Trait Triglycerides
Title Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Risk Allele T
P-val 4.9999999999999998E-7
Odds Ratio 1.00 % [NR] of variance explained
[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 19773416OA-icon.png] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women

GWAS snp
PMID [PMID 22171074]
Title A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
Risk Allele
P-val 1E-9
Odds Ratio None None

Risk rs328(G;G)
Alt rs328(G;G)
Reference Rs328(C;C)
Significance Non-pathogenic
Variation info
Gene LPL
Reversed 0
HGVS NC_000008.10:g.19819724C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001598.2,

[PMID 16642433OA-icon.png] Polymorphism in maternal LRP8 gene is associated with fetal growth.

[PMID 16700901OA-icon.png] Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.

[PMID 17157861OA-icon.png] 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.

[PMID 17291198] The lipoprotein lipase gene serine 447 stop variant influences hypertension-induced left ventricular hypertrophy and risk of coronary heart disease.

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

[PMID 18275964OA-icon.png] Low-density lipoprotein and high-density lipoprotein cholesterol levels in relation to genetic polymorphisms and menopausal status: the Atherosclerosis Risk in Communities (ARIC) Study.

[PMID 18280754OA-icon.png] Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.

[PMID 18513389OA-icon.png] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.

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

[PMID 18678614OA-icon.png] Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.

[PMID 18922999] Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.

[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 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

[PMID 19131662OA-icon.png] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

[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 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 19200524OA-icon.png] A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.

[PMID 19263529OA-icon.png] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

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

[PMID 19336475OA-icon.png] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.

[PMID 19408013OA-icon.png] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

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

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19557453OA-icon.png] beta-Carotene conversion products and their effects on adipose tissue.

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

[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

[PMID 20018036OA-icon.png] Using a latent growth curve model for an integrative assessment of the effects of genetic and environmental factors on multiple phenotypes.

[PMID 20018039OA-icon.png] Associating multiple longitudinal traits with high-dimensional single-nucleotide polymorphism data: application to the Framingham Heart Study.

[PMID 20150529OA-icon.png] Associations of lipoprotein lipase gene polymorphisms with longitudinal plasma lipid trends in young adults: The Coronary Artery Risk Development in Young Adults (CARDIA) study.

[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

[PMID 21316679] 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 21840003] 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
aa_change Ser474Stop
aa_change_short S474X
impact protective
qualified_impact Low clinical importance, Uncertain protective
overall_frequency 0.0844953
summary 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.

GWAS snp
PMID [PMID 24386095OA-icon.png]
Trait Lipid traits
Title A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
Risk Allele G
P-val 3E-10
Odds Ratio .07 [0.026-0.116] mmol/L decrease

[PMID 25671407] A Systems Genetics Approach to Dyslipidemia in Children and Adolescents

[PMID 28115978] High fat diet modifies the association of lipoprotein lipase gene polymorphism with high density lipoprotein cholesterol in an Asian Indian population.

[PMID 28143480] Common variants in the genes of triglyceride and HDL-C metabolism lack association with coronary artery disease in the Pakistani subjects.