{{Rsnum
|rsid=268
|Gene=LPL
|Chromosome=8
|position=19956018
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.008264
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=LPL
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 99.1 | 0.9 | 0.0
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 98.2 | 1.8 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 99.0 | 1.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 98.0 | 2.0 | 0.0
| HapMapRevision=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, [[Type-2 diabetes|T2DM]], and [[Heart disease|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: 
*[http://books.google.com/books?id=s47KK1DDgPsC&pg=PT197&lpg=PT197&dq=Asn291Ser+rs268&source=bl&ots=X-hml7X8ne&sig=j06mOuDPJJqNYDf0UQb_E21T9_4&hl=en&sa=X&ei=l7DJU5ivM4bhoASdqIH4Cg&ved=0CB0Q6AEwAA#v=onepage&q=Asn291Ser%20rs268&f=false|High-Density Lipoproteins: Structure, Metabolism, Function and Therapeutics]
*[http://evidence.pgp-hms.org/LPL-N318S|LPL N318S - GET-Evidence]

{{PMID Auto
|PMID=20429872
|Title=A systematic review and meta-analysis of the relationship between lipoprotein lipase Asn291Ser variant and diseases.
|OA=1
}}

{{PMID Auto
|PMID=20429872
|Title=Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study
|OA=1
}}

{{omim
|id=609708
|rsnum=268
|variant=0033
}}

{{PMID Auto GWAS
|PMID=22399527
|Trait=None
|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.
|RiskAllele=G
|Pval=2E-12
|OR=0.3800
|ORtxt=None
|OA=1
}}

{{ClinVar
|rsid=268
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=19813529
|CHROM=8
|GMAF=0.0082
|dbSNPBuildID=36
|SSR=0
|SAO=1
|VP=0x05026800000004051f130100
|GENEINFO=LPL:4023
|GENE_NAME=LPL
|GENE_ID=4023
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000008.10:g.19813529A>G
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=609708.0033
|CLNSIG=5
|CLNCUI=C0020474
|CLNDBN=Hyperlipidemia, familial combined
|Disease=Hyperlipidemia
|CLNACC=RCV000001615.1
|Tags=PM;PMC;S3D;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;MTP;OM
|CAF=0.9917; 0.008264
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C0020474:144250
|COMMON=1
}}

{{PMID Auto
|PMID=17357073
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18280754
|Title=Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.
|OA=1
}}

{{PMID Auto
|PMID=18513389
|Title=New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
|OA=1
}}

{{PMID Auto
|PMID=18660489
|Title=Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
}}

{{PMID Auto
|PMID=18922999
|Title=Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis.
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|OA=1
}}

{{PMID Auto
|PMID=7647785
|Title=A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis.
|OA=1
}}

{{PMID Auto
|PMID=19131662
|Title=A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=22042884
|Title=Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study.
|OA=1
}}

{{GET Evidence
|gene=LPL
|aa_change=Asn318Ser
|aa_change_short=N318S
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs268
|overall_frequency_n=145
|overall_frequency_d=10758
|overall_frequency=0.0134783
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=!
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_severity=3
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|pph2_score=0.005
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=3
|n_web_uneval=7
|variant_evidence=1
|clinical_importance=0
|summary_short=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.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}