Gene: LPL

Alternate names for this Gene: HDLCQ11|LIPD

Gene Summary: LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.3

Description of this Gene: lipoprotein lipase

Type of Gene: protein-coding

rs287 in LPL gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs15285 in LPL gene and Blood Pressure PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs286 in LPL gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs15285 in LPL gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs264 in LPL gene and Coronary heart disease PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs328 in LPL gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

rs10099160 in LPL gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 26763881 2016 Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.

rs1181582051 in LPL gene and Hyperlipoproteinemia Type I PMID 11099402 2000 A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

PMID 10787434 2000 Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.

PMID 12204001 2002 Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.

PMID 1598907 1992 A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.

PMID 2010533 1991 Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

PMID 15877202 2005 Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.

PMID 1400331 1992 Missense mutations in exon 5 of the human lipoprotein lipase gene. Inactivation correlates with loss of dimerization.

PMID 11068186 2000 A newly identified lipoprotein lipase (LPL) gene mutation (F270L) in a Japanese patient with familial LPL deficiency.

PMID 12641539 2003 Novel LPL mutation (L303F) found in a patient associated with coronary artery disease and severe systemic atherosclerosis.

PMID 8956048 1996 Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

PMID 1674945 1991 Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

PMID 8325986 1993 Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.

PMID 1969408 1990 Missense mutation (Gly----Glu188) of human lipoprotein lipase imparting functional deficiency.

PMID 7906986 1994 Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries.

PMID 8135797 1994 A new Italian case of lipoprotein lipase deficiency: a Leu365- > Val change resulting in loss of enzyme activity.

PMID 7806969 1994 A novel missense mutation in the C-terminal domain of lipoprotein lipase (Glu410-->Val) leads to enzyme inactivation and familial chylomicronemia.

PMID 8778602 1996 Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene.

PMID 8288243 1993 A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).

PMID 8956052 1996 A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

PMID 9279761 1997 Assessment of French patients with LPL deficiency for French Canadian mutations.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 1969408 1990 Cloning and sequencing of lipoprotein lipase (LPL) cDNA prepared from the adipose tissue of a patient with classical LPL deficiency revealed a G to A transition at nucleotide 818 in all sequenced clones, leading to the substitution of glutamic acid for glycine at residue 188 of the mature protein.

PMID 22095987 2012 We studied 3 subjects with familial LPL deficiency; 14 subjects heterozygous for the LPL gene mutations Gly188Glu, Trp64Stop, and Ile194Thr; and 10 control subjects.

PMID 27055971 2016 Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

PMID 17717288 2007 Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).

PMID 27573733 2016 High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency.

PMID 25966443 2015 Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

PMID 1674945 1991 Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.

PMID 1505655 1992 The molecular defects in lipoprotein lipase deficient patients.

PMID 1702428 1991 Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome.

PMID 16972177 2006 Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations.

PMID 11099402 2000 A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia.

PMID 8956048 1996 Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia.

PMID 1598907 1992 A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.

rs1059611 in LPL gene and Lipids measurement PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

rs263 in LPL gene and Metabolic Syndrome X PMID 30382898 2018 Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

PMID 22399527 2012 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.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

rs322 in LPL gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs12679834 in LPL gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs12679834 in LPL gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12679834 in LPL gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10099160 in LPL gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

rs1059611 in LPL gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs328 in LPL gene and Serum total cholesterol measurement PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

rs1031045 in LPL gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 21386085 2011 A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 23202125 2013 Large-scale association analysis identifies new risk loci for coronary artery disease.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 18193046 2008 Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 22171074 2012 A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 24386095 2013 A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

PMID 31675503 2019 Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.

rs15285 in LPL gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.