|(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|
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.
[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)|
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