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 : promoter polymorphism -93 T-to-G, associated with lower plasma triglyceride levels and increased promoter activity in vitro
| Title : Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the -93G\/D9N variant predisposes to low HDL-C\/high triglycerides - Samuels_2001_Clin.Genet_59_88 |
| Author(s) : Samuels ME , Forbey KC , Reid JE , Abkevich V , Bulka K , Wardell BR , Bowen BR , Hopkins PN , Hunt SC , Ballinger DG , Skolnick MH , Wagner S |
| Ref : Clin Genet , 59 :88 , 2001 |
| Abstract : Samuels_2001_Clin.Genet_59_88 |
| ESTHER : Samuels_2001_Clin.Genet_59_88 |
| PubMedSearch : Samuels_2001_Clin.Genet_59_88 |
| PubMedID: 11260209 |
| 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 : 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 : 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 : Kastelein_1998_Clin.Genet_53_27 |
| ESTHER : Kastelein_1998_Clin.Genet_53_27 |
| PubMedSearch : Kastelein_1998_Clin.Genet_53_27 |
| PubMedID: 9550358 |
| Title : LPL promoter -93T\/G transition influences fasting and postprandial plasma triglycerides response in African-Americans and Hispanics - Talmud_1998_J.Lipid.Res_39_1189 |
| Author(s) : Talmud PJ , Hall S , Holleran S , Ramakrishnan R , Ginsberg HN , Humphries SE |
| Ref : J Lipid Res , 39 :1189 , 1998 |
| Abstract : Talmud_1998_J.Lipid.Res_39_1189 |
| ESTHER : Talmud_1998_J.Lipid.Res_39_1189 |
| PubMedSearch : Talmud_1998_J.Lipid.Res_39_1189 |
| PubMedID: 9643350 |
| Title : A common mutation in the lipoprotein lipase gene promoter, -93T\/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro - Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969 |
| Author(s) : Hall S , Chu G , Miller G , Cruickshank K , Cooper JA , Humphries SE , Talmud PJ |
| Ref : Arterioscler Thromb Vasc Biol , 17 :1969 , 1997 |
| Abstract : Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969 |
| ESTHER : Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969 |
| PubMedSearch : Hall_1997_Arterioscler.Thromb.Vasc.Biol_17_1969 |
| PubMedID: 9351361 |