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Mutation Report for: IVS8_495T>G_human-LPL

Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
    Comment|HindIII polymorphism, a thymine (T) to a guanine (G) base transition at position 495 in intron 8 H+ allele has been reported to be associated with higher triglyceride and lower HDL-cholesterol levels rs320
    Kinetic parameters|none

      Title: Lipoprotein Lipase/Apolipoprotein Cll Gene Polymorphism in Kurdish Patients With Severe Hypertriglyceridemia
      Hussein K, Salih S, Al-Timimi D
      Ref: Cureus, 15:e46829, 2023 : PubMed


      Title: Corrigendum to Gender-related relation between metabolic syndrome and S447X and HindIII polymorphisms of lipoprotein lipase gene in northern Iran [Gene 706 (2019) 13-18]
      Alinaghian N, Abdollahi E, Torab M, Khodaparast M, Zamani F, Rahimi-Moghaddam P
      Ref: Gene, 725:144152, 2020 : PubMed


      Title: The HindIII and PvuII polymorphisms of lipoprotein lipase (LPL) gene reduce the risk of ischemic stroke (IS): A meta-analysis
      Cao L, Li Q, Chen X
      Ref: Medicine (Baltimore), 97:e0483, 2018 : PubMed


      Title: Association between Lipoprotein Lipase Polymorphism and the Risk of Stroke: A Meta-analysis
      He T, Wang J, Deng WS, Sun P
      Ref: J Stroke Cerebrovasc Dis, 26:2570, 2017 : PubMed


      Title: The D9N, N291S, and T495G Polymorphisms of the Lipoprotein Lipase Gene Are Not Associated with Cerebral Infarction
      Ceja-Espiritu G, Delgado-Enciso I, Ramirez-Flores M, Guzman-Esquivel J, Baltazar-Rodriguez LM
      Ref: J Stroke Cerebrovasc Dis, 25:985, 2016 : PubMed


      Title: Meta-analyses of four polymorphisms of lipoprotein lipase associated with the risk of Alzheimer's disease
      Ren L, Ren X
      Ref: Neuroscience Letters, 619:73, 2016 : PubMed


      Title: The Association of Lipoprotein Lipase Genes, HindIII and S447X Polymorphisms With Coronary Artery Disease in Shiraz City
      Ahmadi Z, Senemar S, Toosi S, Radmanesh S
      Ref: J Cardiovasc Thorac Res, 7:63, 2015 : PubMed


      Title: Associations of three lipoprotein lipase gene polymorphisms, lipid profiles and coronary artery disease
      Daoud MS, Ataya FS, Fouad D, Alhazzani A, Shehata AI, Al-Jafari AA
      Ref: Biomed Rep, 1:573, 2013 : PubMed


      Title: The influence of lipoprotein lipase gene variation on postprandial lipoprotein metabolism
      Lopez-Miranda J, Cruz G, Gomez P, Marin C, Paz E, Perez-Martinez P, Fuentes FJ, Ordovas JM, Perez-Jimenez F
      Ref: J Clinical Endocrinology Metab, 89:4721, 2004 : PubMed


      Title: The lipoprotein lipase gene HindIII polymorphism is associated with lipid levels in early-onset type 2 diabetic patients
      Ma YQ, Thomas GN, Ng MC, Critchley JA, Chan JC, Tomlinson B
      Ref: Metabolism, 52:338, 2003 : PubMed


      Title: Postprandial triglyceride levels in familial combined hyperlipidemia. The role of apolipoprotein E and lipoprotein lipase polymorphisms
      Reiber I, Mezo I, Kalina A, Palos G, Romics L, Csaszar A
      Ref: J Nutr Biochem, 14:394, 2003 : PubMed


      Title: Associations of LPL and APOC3 gene polymorphisms on plasma lipids in a Mediterranean population: interaction with tobacco smoking and the APOE locus
      Corella D, Guillen M, Saiz C, Portoles O, Sabater A, Folch J, Ordovas JM
      Ref: J Lipid Res, 43:416, 2002 : PubMed


      Title: [Genetic factors in myocardial infarction--Results from a candidate gene and a genome-wide approach between beta blockers]
      Hengstenberg C, Brockel U, Holmer S, Mayer B, Fischer M, Baessler A, Erdmann J, Lieb W, Lowel H and Schunkert H <1 more author(s)>
      Ref: Herz, 27:649, 2002 : PubMed


      Title: [HindIII DNA-polymorphism of lipoprotein lipase gene in elderly patients with ischemic heart disease]
      Malygina NA, Kostomarova IV, Deriagin GV, Serova LD
      Ref: Ter Arkh, 74:64, 2002 : PubMed


      Title: Nephropathy in type 1 diabetes: a manifestation of insulin resistance and multiple genetic susceptibilities? Further evidence from the Pittsburgh Epidemiology of Diabetes Complication Study
      Orchard TJ, Chang YF, Ferrell RE, Petro N, Ellis DE
      Ref: Kidney Int, 62:963, 2002 : PubMed


      Title: [Connection of HindIII-polymorphism in the lipoprotein lipase gene with myocardial infarct and life span in elderly ischemic heart disease patients]
      Malygina NA, Melent'ev AS, Kostomarova IV, Melent'ev IA, Saegitov RT, Smirnova Iu B, Serova LD
      Ref: Mol Biol (Mosk), 35:787, 2001 : PubMed


      Title: Common genetic variants that relate to disorders of lipid transport in Spanish subjects with premature coronary artery disease
      Masana L, Febrer G, Cavanna J, Baroni MG, Marz W, Hoffmann MM, Shine B, Galton DJ
      Ref: Clinical Science (Lond), 100:183, 2001 : PubMed


      Title: [Connection of HindIII-polymorphism of the lipoprotein lipase gene with risk of developing myocardial infarct]
      Mustafina OE, Shagisultanova EI, Tuktarova IA, Khusnutdinova EK
      Ref: Mol Biol (Mosk), 35:401, 2001 : PubMed


      Title: [HindIII polymorphism of lipoprotein lipase gene and risk of myocardial infarction]
      Shagisultanova EI, Mustafina OE, Tuktarova IA, Khusnutdinova EK
      Ref: Mol Gen Mikrobiol Virusol, :18, 2001 : PubMed


      Title: Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the Japanese
      Shimo-Nakanishi Y, Urabe T, Hattori N, Watanabe Y, Nagao T, Yokochi M, Hamamoto M, Mizuno Y
      Ref: Stroke, 32:1481, 2001 : PubMed


      Title: Lipoprotein lipase gene polymorphism, cholesterol subfractions and myocardial infarction in large samples of the general population
      Holmer SR, Hengstenberg C, Mayer B, Doring A, Lowel H, Engel S, Hense HW, Wolf M, Klein G and Schunkert H <1 more author(s)>
      Ref: Cardiovascular Research, 47:806, 2000 : PubMed


      Title: Lipoprotein lipase gene variation is associated with adipose tissue lipoprotein lipase activity, and lipoprotein lipid and glucose concentrations in overweight postmenopausal women
      Nicklas BJ, Ferrell RE, Rogus EM, Berman DM, Ryan AS, Dennis KE, Goldberg AP
      Ref: Hum Genet, 106:420, 2000 : PubMed


      Title: Association of sets of alleles of genes encoding beta3-adrenoreceptor, uncoupling protein 1 and lipoprotein lipase with increased risk of metabolic complications in obesity
      Proenza AM, Poissonnet CM, Ozata M, Ozen S, Guran S, Palou A, Strosberg AD
      Ref: Int J Obes Relat Metab Disord, 24:93, 2000 : PubMed


      Title: Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels
      Razzaghi H, Aston CE, Hamman RF, Kamboh MI
      Ref: Hum Genet, 107:257, 2000 : PubMed


      Title: Relationship of abdominal adiposity and dyslipemic status in women with a common mutation in the lipoprotein lipase gene. The REGICOR investigators
      Senti M, Bosch M, Aubo C, Elosua R, Masia R, Marrugat J
      Ref: Atherosclerosis, 150:135, 2000 : PubMed


      Title: Human lipoprotein lipase HindIII polymorphism in young patients with myocardial infarction
      Gambino R, Scaglione L, Alemanno N, Pagano G, Cassader M
      Ref: Metabolism, 48:1157, 1999 : PubMed


      Title: Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci
      Hallman DM, Groenemeijer BE, Jukema JW, Boerwinkle E, Kastelein JJ
      Ref: Ann Hum Genet, 63:499, 1999 : PubMed


      Title: The lipoprotein lipase HindIII polymorphism: association with total cholesterol and LDL-cholesterol, but not with HDL and triglycerides in 342 females
      Larson I, Hoffmann MM, Ordovas JM, Schaefer EJ, Marz W, Kreuzer J
      Ref: Clinical Chemistry, 45:963, 1999 : PubMed


      Title: Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides: the European Atherosclerosis Research Study (EARS)
      Humphries SE, Nicaud V, Margalef J, Tiret L, Talmud PJ
      Ref: Arterioscler Thromb Vasc Biol, 18:526, 1998 : PubMed


      Title: Lipoprotein lipase gene variants and risk of coronary disease: a quantitative analysis of population-based studies
      Hokanson JE
      Ref: Int J Clin Lab Res, 27:24, 1997 : PubMed


      Title: Hind III polymorphism of the lipoprotein lipase gene and plasma lipid response to low calorie diet
      Jemaa R, Tuzet S, Betoulle D, Apfelbaum M, Fumeron F
      Ref: Int J Obes Relat Metab Disord, 21:280, 1997 : PubMed


      Title: Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese
      Ko YL, Ko YS, Wu SM, Teng MS, Chen FR, Hsu TS, Chiang CW, Lee YS
      Ref: Hum Genet, 100:327, 1997 : PubMed


      Title: Variation at the lipoprotein lipase and apolipoprotein AI-CIII gene loci are associated with fasting lipid and lipoprotein traits in a population sample from Iceland: interaction between genotype, gender, and smoking status
      Peacock RE, Temple A, Gudnason V, Rosseneu M, Humphries SE
      Ref: Genet Epidemiol, 14:265, 1997 : PubMed


      Title: Family study of lipoprotein lipase gene polymorphisms and plasma triglyceride levels
      Georges JL, Regis-Bailly A, Salah D, Rakotovao R, Siest G, Visvikis S, Tiret L
      Ref: Genet Epidemiol, 13:179, 1996 : PubMed


      Title: Genetic factors affecting the consistency and magnitude of changes in plasma cholesterol in response to dietary challenge
      Humphries SE, Talmud PJ, Cox C, Sutherland W, Mann J
      Ref: Qjm, 89:671, 1996 : PubMed


      Title: Analysis of protein structure-function in vivo. Adenovirus-mediated transfer of lipase lid mutants in hepatic lipase-deficient mice
      Kobayashi J, Applebaum-Bowden D, Dugi KA, Brown DR, Kashyap VS, Parrott C, Duarte C, Maeda N, Santamarina-Fojo S
      Ref: Journal of Biological Chemistry, 271:26296, 1996 : PubMed


      Title: Frequencies of five genetic polymorphisms in coronarographed patients and effects on lipid levels in a supposedly healthy population
      Regis-Bailly A, Visvikis S, Steinmetz J, Feldmann L, Briancon S, Danchin N, Zannad F, Siest G
      Ref: Clin Genet, 50:339, 1996 : PubMed


      Title: Common DNA polymorphisms at the lipoprotein lipase gene. Association with severity of coronary artery disease and diabetes
      Wang XL, McCredie RM, Wilcken DE
      Ref: Circulation, 93:1339, 1996 : PubMed


      Title: Polymorphisms in the lipoprotein lipase gene and their associations with plasma lipid concentrations in 40-year-old Danish men
      Gerdes C, Gerdes LU, Hansen PS, Faergeman O
      Ref: Circulation, 92:1765, 1995 : PubMed


      Title: Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. Etude Cas Temoin sur l'Infarctus du Myocarde
      Jemaa R, Fumeron F, Poirier O, Lecerf L, Evans A, Arveiler D, Luc G, Cambou JP, Bard JM and et al. <1 more author(s)>
      Ref: J Lipid Res, 36:2141, 1995 : PubMed


      Title: DNA polymorphisms at the lipoprotein lipase gene are associated with macroangiopathy in type 2 (non-insulin-dependent) diabetes mellitus
      Ukkola O, Savolainen MJ, Salmela PI, von Dickhoff K, Kesaniemi YA
      Ref: Atherosclerosis, 115:99, 1995 : PubMed


      Title: The lipoprotein lipase HindIII polymorphism modulates plasma triglyceride levels in visceral obesity
      Vohl MC, Lamarche B, Moorjani S, Prud'homme D, Nadeau A, Bouchard C, Lupien PJ, Despres JP
      Ref: Arterioscler Thromb Vasc Biol, 15:714, 1995 : PubMed


      Title: Polymorphisms of the lipoprotein lipase gene and premature atherosclerosis
      Galton DJ, Mattu RK, Cavanna J
      Ref: J Intern Med Suppl, 736:63, 1994 : PubMed


      Title: DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population
      Mattu RK, Needham EW, Morgan R, Rees A, Hackshaw AK, Stocks J, Elwood PC, Galton DJ
      Ref: Arterioscler Thromb, 14:1090, 1994 : PubMed


      Title: DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides
      Mitchell RJ, Earl L, Bray P, Fripp YJ, Williams J
      Ref: Hum Biol, 66:383, 1994 : PubMed


      Title: Genetic contributions to quantitative lipoprotein traits associated with coronary artery disease: analysis of a large pedigree from the Bogalusa Heart Study
      Heiba IM, DeMeester CA, Xia YR, Diep A, George VT, Amos CI, Srinivasan SR, Berenson GS, Elston RC, Lusis AJ
      Ref: American Journal of Medicine Genet, 47:875, 1993 : PubMed


      Title: Detection of three separate DNA polymorphisms in the human lipoprotein lipase gene by gene amplification and restriction endonuclease digestion
      Gotoda T, Yamada N, Murase T, Shimano H, Shimada M, Harada K, Kawamura M, Kozaki K, Yazaki Y
      Ref: J Lipid Res, 33:1067, 1992 : PubMed


      Title: Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden
      Peacock RE, Hamsten A, Nilsson-Ehle P, Humphries SE
      Ref: Atherosclerosis, 97:171, 1992 : PubMed


      Title: Hind III RFLP in the lipoprotein lipase gene, (LPL)
      Funke H, Klug J, Assmann G
      Ref: Nucleic Acids Research, 15:9102, 1987 : PubMed


      Title: RFLP for the human lipoprotein lipase (LPL) gene: HindIII
      Heinzmann C, Ladias J, Antonarakis S, Kirchgessner T, Schotz M, Lusis AJ
      Ref: Nucleic Acids Research, 15:6763, 1987 : PubMed


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