|(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|
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.
[PMID 28502509] Heterozygous N291S carriers are less insulin sensitive and have increased plasma levels of nonesterified fatty acids and triglycerides compared to non-carriers.
[PMID 20429872] A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases.
[PMID 20429872] Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
|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.|
|Odds Ratio||0.3800 None|
|CLNDBN||Hyperlipidemia, familial combined|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
[PMID 17357073] 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 18280754] Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.
[PMID 18513389] 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 19041386] 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 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 22042884] Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.
|qualified_impact||Moderate clinical importance, Uncertain pathogenic|
|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.|