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.N318S Asn318Ser c.953A>G (N291S Asn291Ser in the mature protein which do not count signal peptide)exon6 found also as compound heterozygote with D277N rs268 || . compound heterozygote c.953A>G (N291S Asn291Ser exon 6)\; p.V227A (p.V200A) and and c.1019-3C > A (intron 6 splice site) Botta et al.
| 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 : Ariza_2020_Clin.Chim.Acta_500_163 |
| ESTHER : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedSearch : Ariza_2020_Clin.Chim.Acta_500_163 |
| PubMedID: 31669931 |
| Gene_locus related to this paper: human-LPL |
| Title : Deciphering the role of V200A and N291S mutations leading to LPL deficiency - Botta_2019_Atherosclerosis_282_45 |
| Author(s) : Botta M , Maurer E , Ruscica M , Romeo S , Stulnig TM , Pingitore P |
| Ref : Atherosclerosis , 282 :45 , 2019 |
| Abstract : Botta_2019_Atherosclerosis_282_45 |
| ESTHER : Botta_2019_Atherosclerosis_282_45 |
| PubMedSearch : Botta_2019_Atherosclerosis_282_45 |
| PubMedID: 30685441 |
| Gene_locus related to this paper: human-LPL |
| Title : The heterozygous N291S mutation in the lipoprotein lipase gene impairs whole-body insulin sensitivity and affects a distinct set of plasma metabolites in humans - Berg_2017_J.Clin.Lipidol_11_515 |
| Author(s) : Berg SM , Havelund J , Hasler-Sheetal H , Kruse V , Pedersen AJT , Hansen AB , Nybo M , Beck-Nielsen H , Hojlund K , Faergeman NJ |
| Ref : J Clin Lipidol , 11 :515 , 2017 |
| Abstract : Berg_2017_J.Clin.Lipidol_11_515 |
| ESTHER : Berg_2017_J.Clin.Lipidol_11_515 |
| PubMedSearch : Berg_2017_J.Clin.Lipidol_11_515 |
| PubMedID: 28502509 |
| Gene_locus related to this paper: human-LPL |
| Title : Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease - Ren_2016_Neurosci.Lett_619_73 |
| Author(s) : Ren L , Ren X |
| Ref : Neuroscience Letters , 619 :73 , 2016 |
| Abstract : Ren_2016_Neurosci.Lett_619_73 |
| ESTHER : Ren_2016_Neurosci.Lett_619_73 |
| PubMedSearch : Ren_2016_Neurosci.Lett_619_73 |
| PubMedID: 26975783 |
| 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 : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| ESTHER : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| PubMedSearch : Ceja-Espiritu_2016_J.Stroke.Cerebrovasc.Dis_25_985 |
| PubMedID: 26853140 |
| Gene_locus related to this paper: human-LPL |
| Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79 |
| Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S |
| Ref : Atherosclerosis , 241 :79 , 2015 |
| Abstract : Rabacchi_2015_Atherosclerosis_241_79 |
| ESTHER : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79 |
| PubMedID: 25966443 |
| 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 : Surendran_2012_J.Intern.Med_272_185 |
| ESTHER : Surendran_2012_J.Intern.Med_272_185 |
| PubMedSearch : Surendran_2012_J.Intern.Med_272_185 |
| PubMedID: 22239554 |
| Gene_locus related to this paper: human-LPL |
| Title : Association of genetic variants and incident coronary heart disease in multiethnic cohorts: the PAGE study - Franceschini_2011_Circ.Cardiovasc.Genet_4_661 |
| Author(s) : Franceschini N , Carty C , Buzkova P , Reiner AP , Garrett T , Lin Y , Vockler JS , Hindorff LA , Cole SA , Boerwinkle E , Lin DY , Bookman E , Best LG , Bella JN , Eaton C , Greenland P , Jenny N , North KE , Taverna D , Young AM , Deelman E , Kooperberg C , Psaty B , Heiss G |
| Ref : Circ Cardiovasc Genet , 4 :661 , 2011 |
| Abstract : Franceschini_2011_Circ.Cardiovasc.Genet_4_661 |
| ESTHER : Franceschini_2011_Circ.Cardiovasc.Genet_4_661 |
| PubMedSearch : Franceschini_2011_Circ.Cardiovasc.Genet_4_661 |
| PubMedID: 22042884 |
| 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 : Ariza_2010_BMC.Med.Genet_11_66 |
| ESTHER : Ariza_2010_BMC.Med.Genet_11_66 |
| 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 : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169 |
| ESTHER : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169 |
| PubMedSearch : Lamon-Fava_2010_Clin.Endocrinol.(Oxf)_72_169 |
| PubMedID: 19489872 |
| Title : Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations - Lu_2008_J.Lipid.Res_49_2582 |
| Author(s) : Lu Y , Dolle ME , Imholz S , van 't Slot R , Verschuren WM , Wijmenga C , Feskens EJ , Boer JM |
| Ref : J Lipid Res , 49 :2582 , 2008 |
| Abstract : Lu_2008_J.Lipid.Res_49_2582 |
| ESTHER : Lu_2008_J.Lipid.Res_49_2582 |
| PubMedSearch : Lu_2008_J.Lipid.Res_49_2582 |
| PubMedID: 18660489 |
| 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 : Sagoo_2008_Am.J.Epidemiol_168_1233 |
| ESTHER : Sagoo_2008_Am.J.Epidemiol_168_1233 |
| PubMedSearch : Sagoo_2008_Am.J.Epidemiol_168_1233 |
| PubMedID: 18922999 |
| 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 : Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| ESTHER : Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| PubMedSearch : Ferencak_2003_Clin.Chem.Lab.Med_41_541 |
| PubMedID: 12747600 |
| Title : Genetics of the lipoprotein lipase gene and hypertriglyceridaemia - McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| Author(s) : McDonnell MG , Young IS , Nicholls DP , Archbold GP , Graham CA |
| Ref : Br J Biomed Sci , 60 :84 , 2003 |
| Abstract : McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| ESTHER : McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| PubMedSearch : McDonnell_2003_Br.J.Biomed.Sci_60_84 |
| PubMedID: 12866915 |
| 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 : Campagna_2002_Metabolism_51_1298 |
| ESTHER : Campagna_2002_Metabolism_51_1298 |
| 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 : van Bockxmeer_2001_Atherosclerosis_157_123 |
| ESTHER : van Bockxmeer_2001_Atherosclerosis_157_123 |
| PubMedSearch : van Bockxmeer_2001_Atherosclerosis_157_123 |
| PubMedID: 11427211 |
| Title : Lipoprotein lipase and apoE polymorphisms: relationship to hypertriglyceridemia during pregnancy - McGladdery_2001_J.Lipid.Res_42_1905 |
| Author(s) : McGladdery SH , Frohlich JJ |
| Ref : J Lipid Res , 42 :1905 , 2001 |
| Abstract : McGladdery_2001_J.Lipid.Res_42_1905 |
| ESTHER : McGladdery_2001_J.Lipid.Res_42_1905 |
| PubMedSearch : McGladdery_2001_J.Lipid.Res_42_1905 |
| PubMedID: 11714860 |
| 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 : Hall_2000_Genet.Epidemiol_18_203 |
| ESTHER : Hall_2000_Genet.Epidemiol_18_203 |
| 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 : Arca_2000_Clin.Genet_58_369 |
| ESTHER : Arca_2000_Clin.Genet_58_369 |
| 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 : Kastelein_1999_Clin.Genet_56_297 |
| ESTHER : Kastelein_1999_Clin.Genet_56_297 |
| PubMedSearch : Kastelein_1999_Clin.Genet_56_297 |
| PubMedID: 10636448 |
| 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 : Hubel_1999_Clin.Genet_56_289 |
| ESTHER : Hubel_1999_Clin.Genet_56_289 |
| 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 : Henderson_1999_J.Lipid.Res_40_735 |
| ESTHER : Henderson_1999_J.Lipid.Res_40_735 |
| PubMedSearch : Henderson_1999_J.Lipid.Res_40_735 |
| PubMedID: 10191298 |
| Title : DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene - Nickerson_1998_Nat.Genet_19_233 |
| Author(s) : Nickerson DA , Taylor SL , Weiss KM , Clark AG , Hutchinson RG , Stengard J , Salomaa V , Vartiainen E , Boerwinkle E , Sing CF |
| Ref : Nat Genet , 19 :233 , 1998 |
| Abstract : Nickerson_1998_Nat.Genet_19_233 |
| ESTHER : Nickerson_1998_Nat.Genet_19_233 |
| PubMedSearch : Nickerson_1998_Nat.Genet_19_233 |
| PubMedID: 9662394 |
| Gene_locus related to this paper: human-LPL |
| 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 : Gerdes_1997_Circulation_96_733 |
| ESTHER : Gerdes_1997_Circulation_96_733 |
| PubMedSearch : Gerdes_1997_Circulation_96_733 |
| PubMedID: 9264476 |
| 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 : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| ESTHER : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| PubMedSearch : Hokanson_1997_Int.J.Clin.Lab.Res_27_24 |
| PubMedID: 9144024 |
| Title : A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease - Wittrup_1997_J.Clin.Invest_99_1606 |
| Author(s) : Wittrup HH , Tybjaerg-Hansen A , Abildgaard S , Steffensen R , Schnohr P , Nordestgaard BG |
| Ref : J Clinical Investigation , 99 :1606 , 1997 |
| Abstract : Wittrup_1997_J.Clin.Invest_99_1606 |
| ESTHER : Wittrup_1997_J.Clin.Invest_99_1606 |
| PubMedSearch : Wittrup_1997_J.Clin.Invest_99_1606 |
| PubMedID: 9120004 |
| Gene_locus related to this paper: human-LPL |
| Title : Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy - Mailly_1997_Hum.Mutat_10_465 |
| Author(s) : Mailly F , Palmen J , Muller DP , Gibbs T , Lloyd J , Brunzell J , Durrington P , Mitropoulos K , Betteridge J , Watts G , Lithell H , Angelico F , Humphries SE , Talmud PJ |
| Ref : Hum Mutat , 10 :465 , 1997 |
| Abstract : Mailly_1997_Hum.Mutat_10_465 |
| ESTHER : Mailly_1997_Hum.Mutat_10_465 |
| PubMedSearch : Mailly_1997_Hum.Mutat_10_465 |
| PubMedID: 9401010 |
| 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 : Fisher_1997_Atherosclerosis_135_145 |
| ESTHER : Fisher_1997_Atherosclerosis_135_145 |
| PubMedSearch : Fisher_1997_Atherosclerosis_135_145 |
| PubMedID: 9430364 |
| Title : Patients with apoE3 deficiency (E2\/2, E3\/2, and E4\/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->\;Ser mutation in the human LPL gene - Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| Author(s) : Zhang H , Reymer PW , Liu MS , Forsythe IJ , Groenemeyer BE , Frohlich J , Brunzell JD , Kastelein JJ , Hayden MR , Ma Y |
| Ref : Arterioscler Thromb Vasc Biol , 15 :1695 , 1995 |
| Abstract : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| ESTHER : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedSearch : Zhang_1995_Arterioscler.Thromb.Vasc.Biol_15_1695 |
| PubMedID: 7583546 |
| Title : A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia - Reymer_1995_Hum.Mol.Genet_4_1543 |
| Author(s) : Reymer PW , Groenemeyer BE , Gagne E , Miao L , Appelman EE , Seidel JC , Kromhout D , Bijvoet SM , van de Oever K , Bruin T , et al. |
| Ref : Hum Mol Genet , 4 :1543 , 1995 |
| Abstract : Reymer_1995_Hum.Mol.Genet_4_1543 |
| ESTHER : Reymer_1995_Hum.Mol.Genet_4_1543 |
| PubMedSearch : Reymer_1995_Hum.Mol.Genet_4_1543 |
| PubMedID: 8541837 |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : Ma_1994_J.Lipid.Res_35_1066 |
| ESTHER : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |