Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.Asp36Asn D36N (Asp9Asn D9N in the mature protein which do not count signal peptide). rs1801177
| Title : Predicted deleterious variants in ABCA1, LPL, LPA and KIF6 are associated with statin response and adverse events in patients with familial hypercholesterolemia and disturb protein structure and stability - Dagli-Hernandez_2024_Pharmacogenet.Genomics_34_91 |
| Author(s) : Dagli-Hernandez C , Ferreira GM , Freitas RCC , Borges JB , Oliveira VF , Goncalves RM , Faludi AA , Marcal E , Bastos GM , Bortolin RH , Hirata MH , Hirata RDC |
| Ref : Pharmacogenet Genomics , 34 :91 , 2024 |
| Abstract : |
| PubMedSearch : Dagli-Hernandez_2024_Pharmacogenet.Genomics_34_91 |
| PubMedID: 38682317 |
| Gene_locus related to this paper: human-LPL |
| Title : Genetic variants in the LPL and GPIHBP1 genes, in patients with severe hypertriglyceridaemia, detected with high resolution melting analysis - Ariza_2020_Clin.Chim.Acta_500_163 |
| Author(s) : Ariza MJ , Perez-Lopez C , Almagro F , Sanchez-Tevar AM , Muniz-Grijalvo O , Alvarez-Sala Walter LA , Rioja J , Sanchez-Chaparro MA , Valdivielso P |
| Ref : Clinica Chimica Acta , 500 :163 , 2020 |
| Abstract : |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : The D9N, N291S, and T495G Polymorphisms of the Lipoprotein Lipase Gene Are Not Associated with Cerebral Infarction - Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| Author(s) : Ceja-Espiritu G , Delgado-Enciso I , Ramirez-Flores M , Guzman-Esquivel J , Baltazar-Rodriguez LM |
| Ref : J Stroke Cerebrovasc Dis , 25 :985 , 2016 |
| Abstract : |
| PubMedSearch : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| PubMedID: 26853140 |
| Gene_locus related to this paper: human-LPL |
| Title : Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency - Rodrigues_2016_J.Clin.Lipidol_10_394 |
| Author(s) : Rodrigues R , Artieda M , Tejedor D , Martinez A , Konstantinova P , Petry H , Meyer C , Corzo D , Sundgreen C , Klor HU , Gouni-Berthold I , Westphal S , Steinhagen-Thiessen E , Julius U , Winkler K , Stroes E , Vogt A , Hardt P , Prophet H , Otte B , Nordestgaard BG , Deeb SS , Brunzell JD |
| Ref : J Clin Lipidol , 10 :394 , 2016 |
| Abstract : |
| PubMedSearch : Rodrigues_2016_J.Clin.Lipidol_10_394 |
| PubMedID: 27055971 |
| Gene_locus related to this paper: human-LPL |
| Title : Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency - Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| Author(s) : Martin-Campos JM , Julve J , Roig R , Martinez S , Errico TL , Martinez-Couselo S , Escola-Gil JC , Mendez-Gonzalez J , Blanco-Vaca F |
| Ref : Clinica Chimica Acta , 429 :61 , 2014 |
| Abstract : |
| PubMedSearch : Martin-Campos_2014_Clin.Chim.Acta_429_61 |
| PubMedID: 24291057 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia - Surendran_2012_J.Intern.Med_272_185 |
| Author(s) : Surendran RP , Visser ME , Heemelaar S , Wang J , Peter J , Defesche JC , Kuivenhoven JA , Hosseini M , Peterfy M , Kastelein JJ , Johansen CT , Hegele RA , Stroes ES , Dallinga-Thie GM |
| Ref : J Intern Med , 272 :185 , 2012 |
| Abstract : |
| PubMedSearch : Surendran_2012_J.Intern.Med_272_185 |
| PubMedID: 22239554 |
| Gene_locus related to this paper: human-LPL |
| Title : Additive effects of LPL, APOA5 and APOE variant combinations on triglyceride levels and hypertriglyceridemia: results of the ICARIA genetic sub-study - Ariza_2010_BMC.Med.Genet_11_66 |
| Author(s) : Ariza MJ , Sanchez-Chaparro MA , Baron FJ , Hornos AM , Calvo-Bonacho E , Rioja J , Valdivielso P , Gelpi JA , Gonzalez-Santos P |
| Ref : BMC Med Genet , 11 :66 , 2010 |
| Abstract : |
| PubMedSearch : Ariza_2010_BMC.Med.Genet_11_66 |
| PubMedID: 20429872 |
| Title : Association of polymorphisms in genes involved in lipoprotein metabolism with plasma concentrations of remnant lipoproteins and HDL subpopulations before and after hormone therapy in postmenopausal women - Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169 |
| Author(s) : Lamon-Fava S , Asztalos BF , Howard TD , Reboussin DM , Horvath KV , Schaefer EJ , Herrington DM |
| Ref : Clinical Endocrinology (Oxf) , 72 :169 , 2010 |
| Abstract : |
| PubMedSearch : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169 |
| PubMedID: 19489872 |
| Title : Association of lipoprotein lipase D9N polymorphism with myocardial infarction in type 2 diabetes: the genetics, outcomes, and lipids in type 2 diabetes (GOLD) study - Izar_2009_Atherosclerosis_204_165 |
| Author(s) : Izar MC , Helfenstein T , Ihara SS , Relvas WG , Santos AO , Fischer SC , Pinto LE , Lopes IE , Pomaro DR , Fonseca MI , Bodanese LC , Moriguchi EH , Saraiva JF , Introcaso L , Souza AD , Scartezini M , Torres KP , Zagury L , Jardim PC , Costa EA , Tacito LH , Forti A , Magalhaes ME , Chacra AR , Bertolami MC , Loures-Vale AA , Barros MA , Xavier HT , Lyra R , Argamanijan D , Guimaraes A , Novazzi JP , Kasinski N , Afiune A , Martinez TL , Santos RD , Nicolau JC , Cesar LA , Povoa RM , Carvalho AC , Han SW , Fonseca FA |
| Ref : Atherosclerosis , 204 :165 , 2009 |
| Abstract : |
| PubMedSearch : Izar_2009_Atherosclerosis_204_165 |
| PubMedID: 18823627 |
| Gene_locus related to this paper: human-LPL |
| Title : Seven lipoprotein lipase gene polymorphisms, lipid fractions, and coronary disease: a HuGE association review and meta-analysis - Sagoo_2008_Am.J.Epidemiol_168_1233 |
| Author(s) : Sagoo GS , Tatt I , Salanti G , Butterworth AS , Sarwar N , van Maarle M , Jukema JW , Wiman B , Kastelein JJ , Bennet AM , de Faire U , Danesh J , Higgins JP |
| Ref : Am J Epidemiol , 168 :1233 , 2008 |
| Abstract : |
| PubMedSearch : Sagoo_2008_Am.J.Epidemiol_168_1233 |
| PubMedID: 18922999 |
| Title : Effect of obesity on HDL and LDL particle sizes in carriers of the null P207L or defective D9N mutation in the lipoprotein lipase gene: the Quebec LipD Study - Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631 |
| Author(s) : Ruel IL , Gaudet D , Perron P , Bergeron J , Julien P , Lamarche B |
| Ref : Int J Obes Relat Metab Disord , 27 :631 , 2003 |
| Abstract : |
| PubMedSearch : Ruel_2003_Int.J.Obes.Relat.Metab.Disord_27_631 |
| PubMedID: 12704407 |
| Title : Lipoprotein lipase gene polymorphisms in Croatian patients with coronary artery disease - Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| Author(s) : Ferencak G , Pasalic D , Grskovic B , Cheng S , Fijal B , Sesto M , Skodlar J , Rukavina AS |
| Ref : Clinical Chemistry & Laboratory Medicine , 41 :541 , 2003 |
| Abstract : |
| PubMedSearch : Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| PubMedID: 12747600 |
| Title : Enhanced bridging function and augmented monocyte adhesion by lipoprotein lipase N9: insights into increased risk of coronary artery disease in N9 carriers - Fisher_2003_Atherosclerosis_166_243 |
| Author(s) : Fisher RM , Benhizia F , Schreiber R , Makoveichuk E , Putt W , Al-Haideri M , Deckelbaum RJ , Olivecrona G , Humphries SE , Talmud PJ |
| Ref : Atherosclerosis , 166 :243 , 2003 |
| Abstract : |
| PubMedSearch : Fisher_2003_Atherosclerosis_166_243 |
| PubMedID: 12535736 |
| Gene_locus related to this paper: human-LPL |
| Title : Effect of apolipoprotein E, peroxisome proliferator-activated receptor alpha and lipoprotein lipase gene mutations on the ability of fenofibrate to improve lipid profiles and reach clinical guideline targets among hypertriglyceridemic patients - Brisson_2002_Pharmacogenet_12_313 |
| Author(s) : Brisson D , Ledoux K , Bosse Y , St-Pierre J , Julien P , Perron P , Hudson TJ , Vohl MC , Gaudet D |
| Ref : Pharmacogenetics , 12 :313 , 2002 |
| Abstract : |
| PubMedSearch : Brisson_2002_Pharmacogenet_12_313 |
| PubMedID: 12042669 |
| Title : Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia - Campagna_2002_Metabolism_51_1298 |
| Author(s) : Campagna F , Montali A , Baroni MG , Maria AT , Ricci G , Antonini R , Verna R , Arca M |
| Ref : Metabolism , 51 :1298 , 2002 |
| Abstract : |
| PubMedSearch : Campagna_2002_Metabolism_51_1298 |
| PubMedID: 12370850 |
| Title : Lipoprotein lipase D9N, N291S and S447X polymorphisms: their influence on premature coronary heart disease and plasma lipids - van Bockxmeer_2001_Atherosclerosis_157_123 |
| Author(s) : van Bockxmeer FM , Liu Q , Mamotte C , Burke V , Taylor R |
| Ref : Atherosclerosis , 157 :123 , 2001 |
| Abstract : |
| PubMedSearch : van Bockxmeer_2001_Atherosclerosis_157_123 |
| PubMedID: 11427211 |
| Title : Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study - Hall_2000_Genet.Epidemiol_18_203 |
| Author(s) : Hall S , Talmud PJ , Cook DG , Wicks PD , Rothwell MJ , Strazzullo P , Sagnella GA , Cappuccio FP |
| Ref : Genet Epidemiol , 18 :203 , 2000 |
| Abstract : |
| PubMedSearch : Hall_2000_Genet.Epidemiol_18_203 |
| PubMedID: 10723106 |
| Title : The common mutations in the lipoprotein lipase gene in Italy: effects on plasma lipids and angiographically assessed coronary atherosclerosis - Arca_2000_Clin.Genet_58_369 |
| Author(s) : Arca M , Campagna F , Montali A , Barilla F , Mangieri E , Tanzilli G , Seccareccia F , Campa PP , Ricci G , Pannitteri G |
| Ref : Clin Genet , 58 :369 , 2000 |
| Abstract : |
| PubMedSearch : Arca_2000_Clin.Genet_58_369 |
| PubMedID: 11140837 |
| Title : Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women - Kastelein_1999_Clin.Genet_56_297 |
| Author(s) : Kastelein JJ , Ordovas JM , Wittekoek ME , Pimstone SN , Wilson WF , Gagne SE , Larson MG , Schaefer EJ , Boer JM , Gerdes C , Hayden MR |
| Ref : Clin Genet , 56 :297 , 1999 |
| Abstract : |
| PubMedSearch : Kastelein_1999_Clin.Genet_56_297 |
| PubMedID: 10636448 |
| Title : Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins - Boer_1999_Clin.Genet_56_158 |
| Author(s) : Boer JM , Kuivenhoven JA , Feskens EJ , Schouten EG , Havekes LM , Seidell JC , Kastelein JJ , Kromhout D |
| Ref : Clin Genet , 56 :158 , 1999 |
| Abstract : |
| PubMedSearch : Boer_1999_Clin.Genet_56_158 |
| PubMedID: 10517255 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study - Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535 |
| Author(s) : Wittrup HH , Tybjaerg-Hansen A , Steffensen R , Deeb SS , Brunzell JD , Jensen G , Nordestgaard BG |
| Ref : Arterioscler Thromb Vasc Biol , 19 :1535 , 1999 |
| Abstract : |
| PubMedSearch : Wittrup_1999_Arterioscler.Thromb.Vasc.Biol_19_1535 |
| PubMedID: 10364086 |
| Title : Association of pre-eclampsia with common coding sequence variations in the lipoprotein lipase gene - Hubel_1999_Clin.Genet_56_289 |
| Author(s) : Hubel CA , Roberts JM , Ferrell RE |
| Ref : Clin Genet , 56 :289 , 1999 |
| Abstract : |
| PubMedSearch : Hubel_1999_Clin.Genet_56_289 |
| PubMedID: 10636447 |
| Title : Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins - Henderson_1999_J.Lipid.Res_40_735 |
| Author(s) : Henderson HE , Kastelein JJ , Zwinderman AH , Gagne E , Jukema JW , Reymer PW , Groenemeyer BE , Lie KI , Bruschke AV , Hayden MR , Jansen H |
| Ref : J Lipid Res , 40 :735 , 1999 |
| Abstract : |
| PubMedSearch : Henderson_1999_J.Lipid.Res_40_735 |
| PubMedID: 10191298 |
| Title : The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group - Kastelein_1998_Clin.Genet_53_27 |
| Author(s) : Kastelein JJ , Groenemeyer BE , Hallman DM , Henderson H , Reymer PW , Gagne SE , Jansen H , Seidell JC , Kromhout D , Jukema JW , Bruschke AV , Boerwinkle E , Hayden MR |
| Ref : Clin Genet , 53 :27 , 1998 |
| Abstract : |
| PubMedSearch : Kastelein_1998_Clin.Genet_53_27 |
| PubMedID: 9550358 |
| Title : Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies - Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| Author(s) : Hokanson JE |
| Ref : Int J Clin Lab Res , 27 :24 , 1997 |
| Abstract : |
| PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| PubMedID: 9144024 |
| Title : Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis - Fisher_1997_Atherosclerosis_135_145 |
| Author(s) : Fisher RM , Humphries SE , Talmud PJ |
| Ref : Atherosclerosis , 135 :145 , 1997 |
| Abstract : |
| PubMedSearch : Fisher_1997_Atherosclerosis_135_145 |
| PubMedID: 9430364 |
| Title : Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: studies in the fasting and postprandial states: the European Atherosclerosis Research Studies - Gerdes_1997_Circulation_96_733 |
| Author(s) : Gerdes C , Fisher RM , Nicaud V , Boer J , Humphries SE , Talmud PJ , Faergeman O |
| Ref : Circulation , 96 :733 , 1997 |
| Abstract : |
| PubMedSearch : Gerdes_1997_Circulation_96_733 |
| PubMedID: 9264476 |
| Title : Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia - de Bruin_1996_Eur.J.Clin.Invest_26_631 |
| Author(s) : de Bruin TW , Mailly F , van Barlingen HH , Fisher R , Castro Cabezas M , Talmud P , Dallinga-Thie GM , Humphries SE |
| Ref : European Journal of Clinical Investigation , 26 :631 , 1996 |
| Abstract : |
| PubMedSearch : de Bruin_1996_Eur.J.Clin.Invest_26_631 |
| PubMedID: 8872057 |
| Gene_locus related to this paper: human-LPL |
| Title : Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His) - Rouis_1996_J.Lipid.Res_37_651 |
| Author(s) : Rouis M , Lohse P , Dugi KA , Beg OU , Ronan R , Talley GD , Brunzell JD , Santamarina-Fojo S |
| Ref : J Lipid Res , 37 :651 , 1996 |
| Abstract : |
| PubMedSearch : Rouis_1996_J.Lipid.Res_37_651 |
| PubMedID: 8728326 |
| Title : Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM Study - Mailly_1996_Atherosclerosis_122_21 |
| Author(s) : Mailly F , Fisher RM , Nicaud V , Luong LA , Evans AE , Marques-Vidal P , Luc G , Arveiler D , Bard JM , Poirier O , Talmud PJ , Humphries SE |
| Ref : Atherosclerosis , 122 :21 , 1996 |
| Abstract : |
| PubMedSearch : Mailly_1996_Atherosclerosis_122_21 |
| PubMedID: 8724108 |
| Title : A common variant in the gene for lipoprotein lipase (Asp9-->\;Asn). Functional implications and prevalence in normal and hyperlipidemic subjects - Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468 |
| Author(s) : Mailly F , Tugrul Y , Reymer PW , Bruin T , Seed M , Groenemeyer BF , Asplund-Carlson A , Vallance D , Winder AF , Miller GJ , et al. |
| Ref : Arterioscler Thromb Vasc Biol , 15 :468 , 1995 |
| Abstract : |
| PubMedSearch : Mailly_1995_Arterioscler.Thromb.Vasc.Biol_15_468 |
| PubMedID: 7749858 |
| Title : The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity - |
| Author(s) : Nevin DN , Brunzell JD , Deeb SS |
| Ref : Arteriosclerosis Thromb , 14 :869 , 1994 |
| PubMedID: |