rs268
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 19956018 |
| Gene | LPL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs268 |
| dbSNP (classic) | rs268 |
| ClinGen | rs268 |
| ebi | rs268 |
| HLI | rs268 |
| Exac | rs268 |
| Gnomad | rs268 |
| Varsome | rs268 |
| LitVar | rs268 |
| Map | rs268 |
| PheGenI | rs268 |
| Biobank | rs268 |
| 1000 genomes | rs268 |
| hgdp | rs268 |
| ensembl | rs268 |
| geneview | rs268 |
| scholar | rs268 |
| rs268 | |
| pharmgkb | rs268 |
| gwascentral | rs268 |
| openSNP | rs268 |
| 23andMe | rs268 |
| SNPshot | rs268 |
| SNPdbe | rs268 |
| MSV3d | rs268 |
| GWAS Ctlg | rs268 |
| GMAF | 0.008264 |
| Max Magnitude | 2.1 |
| ? | (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 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
| GWAS snp | |
|---|---|
| PMID | [PMID 22399527]
|
| 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 UniProtKB (protein) |
| CLNACC | RCV000001615.2, |
[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.
[PMID 32952508] Association of Four Missense SNPs with Preeclampsia in Saudi Women.
