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rs328

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs328(C;G)
Make rs328(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position19962213
GeneLPL
is asnp
is mentioned by
dbSNPrs328
ebirs328
HLIrs328
Exacrs328
Varsomers328
Maprs328
PheGenIrs328
hapmaprs328
1000 genomesrs328
hgdprs328
ensemblrs328
gopubmedrs328
geneviewrs328
scholarrs328
googlers328
pharmgkbrs328
gwascentralrs328
openSNPrs328
23andMers328
23andMe allrs328
SNP Nexus

SNPshotrs328
SNPdbers328
MSV3drs328
GWAS Ctlgrs328
GMAF0.09642
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
OMIM609708
DescLIPOPROTEIN LIPASE; LPL
Variant
Relatedalso
[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]
Trait
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


ClinVar
Risk rs328(G;G)
Alt rs328(G;G)
Reference rs328(C;C)
Significance Non-pathogenic
Disease LIPOPROTEIN LIPASE POLYMORPHISM
Variation info
Gene LPL
CLNDBN LIPOPROTEIN LIPASE POLYMORPHISM
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
LPL-S474X
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