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rs1800588

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.6 normal HDL-C levels
(C;T) 1.8 higher HDL-C levels
(T;T) 1.8 higher HDL-C levels
ReferenceGRCh38 38.1/141
Chromosome15
Position58431476
GeneLIPC, LOC102724766
is asnp
is mentioned by
dbSNPrs1800588
ebirs1800588
HLIrs1800588
Exacrs1800588
Varsomers1800588
Maprs1800588
PheGenIrs1800588
hapmaprs1800588
1000 genomesrs1800588
hgdprs1800588
ensemblrs1800588
gopubmedrs1800588
geneviewrs1800588
scholarrs1800588
googlers1800588
pharmgkbrs1800588
gwascentralrs1800588
openSNPrs1800588
23andMers1800588
23andMe allrs1800588
SNP Nexus

SNPshotrs1800588
SNPdbers1800588
MSV3drs1800588
GWAS Ctlgrs1800588
GMAF0.3646
Max Magnitude1.8
? (C;C) (C;T) (T;T) 28
rs1800588, also known as the -514C/T polymorphism of the LIPC gene, may influence the levels of the "good" cholestorols, the high density lipoprotein (HDL) cholesterols. Generally, the (T) allele (as published) is considered to lead to higher HDL levels.

However, high HDL cholesterol, at least when combined with another HDL raising SNP (rs708272), doesn't appear to actually protect individuals from coronary artery disease, at least based on one study of ~800 Caucasian male patients. [PMID 18164013]

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 T
P-val 2.0000000000000001E-32
Odds Ratio 0.14 [0.12-0.16]% SD higher


[PMID 19558527] Hepatic lipase promoter C-480T polymorphism (a synonym for -514C/T) is associated with serum lipids levels, but not subclinical atherosclerosis: The Cardiovascular Risk in Young Finns Study


[PMID 20075193OA-icon.png] A genome-wide linkage scan identifies multiple QTLs for HDL cholesterol levels in families with premature CAD and MI


[PMID 19773416OA-icon.png] A gene score of nine LDL and HDL regulating genes is associated with fluvastatin-induced cholesterol changes in women

[PMID 21252145OA-icon.png] Physical Activity Modifies the Effect of LPL, LIPC and CETP Polymorphisms on HDL-C Levels and the Risk of Myocardial Infarction in Caucasian Women


[PMID 21149302OA-icon.png] Effects of genetic variants on lipid parameters and dyslipidemia in a Chinese population

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

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

[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 19101670OA-icon.png] LIPC variants in the promoter and intron 1 modify HDL-C levels in a sex-specific fashion.

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

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

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

[PMID 19734193OA-icon.png] Polymorphisms in the hepatic lipase gene affect plasma HDL-cholesterol levels in a Turkish population.

[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

[PMID 19822575OA-icon.png] Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing.

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

[PMID 21347282OA-icon.png] Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

[PMID 22294764OA-icon.png] Genetic polymorphisms in fatty acid metabolism genes and colorectal cancer.


GET Evidence
rs1800588
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.307676
summary



[PMID 23262498] Impact of geneticfactorsondyslipidemia in HIV-infected patients starting antiretroviral therapy


[PMID 24426196OA-icon.png] Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study


[PMID 22935046] A high carbohydrate diet induces the beneficial effect of the CC genotype of hepatic lipase C-514T polymorphism on the apoB100/apoAI ratio only in young Chinese males.


[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.


[PMID 23372063] Genetic determination of plasma cholesterol efflux capacity is gender-specific and independent of HDL-cholesterol levels.


[PMID 23550552] Association of hepatic lipase gene polymorphisms with hypertriglyceridemia and low high-density lipoprotein-cholesterol levels among South Indian subjects without diabetes.


[PMID 25020710] P324Circadian genes in the regulation of lipids in coronary artery disease


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