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rs268

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2 3X increased risk for venous thromboembolism
(G;G) 2.1 3X+ increased risk for venous thromboembolism
ReferenceGRCh38 38.1/141
Chromosome8
Position19956018
GeneLPL
is asnp
is mentioned by
dbSNPrs268
ebirs268
HLIrs268
Exacrs268
Varsomers268
Maprs268
PheGenIrs268
hapmaprs268
1000 genomesrs268
hgdprs268
ensemblrs268
gopubmedrs268
geneviewrs268
scholarrs268
googlers268
pharmgkbrs268
gwascentralrs268
openSNPrs268
23andMers268
23andMe allrs268
SNP Nexus

SNPshotrs268
SNPdbers268
MSV3drs268
GWAS Ctlgrs268
GMAF0.008264
Max Magnitude2.1
? (A;A) (A;G) (G;G) 28
rs268, also known as LPL Asn291Ser as well as LPL N291S or N318S, a SNP in the lipoprotein lipase LPL gene, has been linked to increased susceptibility to hypertriglyceridemia, heart disease, Type-2 diabetes, idiopathic venous thromboembolism. A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases. The summary standardized mean difference (SMD) of plasma triglyceride (TG) for carriers compared with noncarriers of the Asn291Ser variant was 3.23 (P < 0.00001). The summary SMD of plasma HDL-cholsterol (HDL-C) for carriers compared with noncarriers of the Asn291Ser variant was -3.42 (P < 0.0001). The summary SMD of the association of the Asn291Ser variant with plasma TG increased with increasing age and weight gain. Significant interactions between the LPL Asn291Ser variant and fasting glucose, T2DM, and CHD (Coronary Heart Disease) were seen (P = 0.02, 0.04, and 0.01, respectively).[PMID 16741292] A study of 300+ individuals resulted in an odds ratio of 3.09 (CI: 1.56-6.09, p=0.001) for carriers of a rs268(G) allele.[PMID 16651467]

Note: Also known as LPL p.Asn291Ser as well as p.Asn318Ser because of a change in numbering of the bases in the LPL gene in the Human Reference Sequence Build 37.

References:


[PMID 20429872OA-icon.png] A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases.


[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

OMIM609708
Desc
Variant0033
Relatedalso
GWAS snp
PMID [PMID 22399527OA-icon.png]
Trait
Title Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
Risk Allele G
P-val 2E-12
Odds Ratio 0.3800 None


ClinVar
Risk rs268(G;G)
Alt rs268(G;G)
Reference rs268(A;A)
Significance Pathogenic
Disease Hyperlipidemia
Variation info
Gene LPL
CLNDBN Hyperlipidemia, familial combined
Reversed 0
HGVS NC_000008.10:g.19813529A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001615.2,



[PMID 17357073OA-icon.png] Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol.


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


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


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 7647785] A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.


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


[PMID 22042884OA-icon.png] Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.


GET Evidence
LPL-N318S
aa_change Asn318Ser
aa_change_short N318S
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0134783
summary Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease.