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Mutation Report for: Prom-514T_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
    CommentThe C-->T(-514) allele is associated with lower HL -514C/T
      Title: The -250G/A and -514C/T Polymorphisms in Hepatic Lipase Gene Promoter Confers an Increased Risk of Hepatocellular Carcinoma in a Chinese Population
      Niu CZ, Zhang FH, Li Y, Liu JJ, Bao CX
      Ref: Ann Hepatol, 17:992, 2018 : PubMed


      Title: Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses
      Murase T, Okubo M, Ebara T, Mori Y
      Ref: J Clin Lipidol, 11:1383, 2017 : PubMed


      Title: Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency
      Pericleous M, Kelly C, Wang T, Livingstone C, Ala A
      Ref: Lancet Gastroenterol Hepatol, 2:670, 2017 : PubMed


      Title: The -514C/T Polymorphism of Hepatic Lipase Gene among Iranian Patients with Coronary Heart Disease
      Ghatreh Samani K, Noori M, Nobar MR, Chaleshtory MH, Farrokhi E, Amin MD
      Ref: Iran J Public Health, 41:59, 2012 : PubMed


      Title: Pancreatitis caused by hypertriglyceridemia in a patient compound heterozygous for Leu334Phe and -514C-->T in the hepatic lipase gene
      Ebara T, Murase T, Okubo M
      Ref: Pancreas, 38:233, 2009 : PubMed


      Title: Combined hepatic lipase -514C/T and cholesteryl ester transfer protein I405V polymorphisms are associated with the risk of coronary artery disease
      Ghatrehsamani K, Darabi M, Rahbani M, Hashemzadeh Chaleshtory M, Farrokhi E, Noori M
      Ref: Genet Test Mol Biomarkers, 13:809, 2009 : PubMed


      Title: Hepatic lipase gene -514C/T polymorphism in the Guangxi Hei Yi Zhuang and Han populations
      Wu J, Yin R, Lin W, Pan S, Yang D
      Ref: Lipids, 43:733, 2008 : PubMed


      Title: [Association of hepatic lipase gene promoter polymorphism -514C/T with nonalcoholic fatty liver disease]
      Zhan Q, Li YY, Nie YQ, Zhou YJ, Du YL, Sha WH, Wang H
      Ref: Zhonghua Gan Zang Bing Za Zhi, 16:375, 2008 : PubMed


      Title: Hepatic lipase C-514T polymorphism and its association with high-density lipoprotein cholesterol level in Tehran
      Daneshpour MS, Hedayati M, Azizi F
      Ref: Eur J Cardiovasc Prev Rehabil, 13:101, 2006 : PubMed


      Title: Common hepatic lipase gene promoter variant predicts the degree of neointima formation after carotid endarterectomy: impact of plaque composition and lipoprotein phenotype
      Zambon A, Puato M, Faggin E, Bertocco S, Vitturi N, Polentarutti V, Deriu GP, Grego F, Bertipaglia B and Pauletto P <3 more author(s)>
      Ref: Atherosclerosis, 185:121, 2006 : PubMed


      Title: Polymorphisms in four genes related to triglyceride and HDL-cholesterol levels in the general Japanese population in 2000
      Arai H, Yamamoto A, Matsuzawa Y, Saito Y, Yamada N, Oikawa S, Mabuchi H, Teramoto T, Sasaki J and Kita T <8 more author(s)>
      Ref: J Atheroscler Thromb, 12:240, 2005 : PubMed


      Title: Effect of hepatic lipase -514C->T polymorphism and its interactions with apolipoprotein C3 -482C->T and apolipoprotein E exon 4 polymorphisms on the risk of nephropathy in chinese type 2 diabetic patients
      Baum L, Ng MC, So WY, Lam VK, Wang Y, Poon E, Tomlinson B, Cheng S, Lindpaintner K, Chan JC
      Ref: Diabetes Care, 28:1704, 2005 : PubMed


      Title: The -514 C/T polymorphism in the hepatic lipase gene promoter is associated with insulin sensitivity in a healthy young population
      Gomez P, Perez-Jimenez F, Marin C, Moreno JA, Gomez MJ, Bellido C, Perez-Martinez P, Fuentes F, Paniagua JA, Lopez-Miranda J
      Ref: J Mol Endocrinol, 34:331, 2005 : PubMed


      Title: The -514C/T polymorphism of the hepatic lipase gene significantly modulates the HDL-cholesterol response to statin treatment
      Lahoz C, Pena R, Mostaza JM, Laguna F, Garcia-Iglesias MF, Taboada M, Pinto X
      Ref: Atherosclerosis, 182:129, 2005 : PubMed


      Title: Liver fat and insulin resistance are independently associated with the -514C>T polymorphism of the hepatic lipase gene
      Stefan N, Schafer S, Machicao F, Machann J, Schick F, Claussen CD, Stumvoll M, Haring HU, Fritsche A
      Ref: J Clinical Endocrinology Metab, 90:4238, 2005 : PubMed


      Title: Hepatic lipase gene variant -514C>T is associated with lipoprotein and insulin sensitivity response to regular exercise: the HERITAGE Family Study
      Teran-Garcia M, Santoro N, Rankinen T, Bergeron J, Rice T, Leon AS, Rao DC, Skinner JS, Bergman RN and Bouchard C <1 more author(s)>
      Ref: Diabetes, 54:2251, 2005 : PubMed


      Title: Interaction between insulin (VNTR) and hepatic lipase (LIPC-514C>T) variants on the response to an oral glucose tolerance test in the EARSII group of young healthy men
      Waterworth DM, Jansen H, Nicaud V, Humphries SE, Talmud PJ
      Ref: Biochimica & Biophysica Acta, 1740:375, 2005 : PubMed


      Title: C-514T polymorphism in hepatic lipase gene promoter is associated with elevated triglyceride levels and decreasing insulin sensitivity in nondiabetic Japanese subjects
      Yabu Y, Noma K, Nakatani K, Nishioka J, Suematsu M, Katsuki A, Hori Y, Yano Y, Sumida Y and Nobori T <1 more author(s)>
      Ref: Int J Mol Med, 16:421, 2005 : PubMed


      Title: Interactions between the -514C->T polymorphism of the hepatic lipase gene and lifestyle factors in relation to HDL concentrations among US diabetic men
      Zhang C, Lopez-Ridaura R, Rimm EB, Rifai N, Hunter DJ, Hu FB
      Ref: Am J Clin Nutr, 81:1429, 2005 : PubMed


      Title: Influence of the -514C/T polymorphism in the promoter of the hepatic lipase gene on postprandial lipoprotein metabolism
      Gomez P, Miranda JL, Marin C, Bellido C, Moreno JA, Moreno R, Perez-Martinez P, Perez-Jimenez F
      Ref: Atherosclerosis, 174:73, 2004 : PubMed


      Title: The -514 C->T hepatic lipase promoter region polymorphism and plasma lipids: a meta-analysis
      Isaacs A, Sayed-Tabatabaei FA, Njajou OT, Witteman JC, van Duijn CM
      Ref: J Clinical Endocrinology Metab, 89:3858, 2004 : PubMed


      Title: Association of the -514C-->T polymorphism in the hepatic lipase gene (LIPC) promoter with elevated fasting insulin concentrations, but not insulin resistance, in non-diabetic Germans
      Machicao F, Staiger H, Fritsche A, Guirguis A, Weisser M, Stumvoll M, Haring HU
      Ref: Hormone & Metabolic Research, 36:303, 2004 : PubMed


      Title: Atorvastatin dose-dependently decreases hepatic lipase activity in type 2 diabetes: effect of sex and the LIPC promoter variant
      Berk P, II, Hoogerbrugge N, Stolk RP, Bootsma AH, Jansen H
      Ref: Diabetes Care, 26:427, 2003 : PubMed


      Title: Hepatic lipase promoter C-514T polymorphism influences serial changes in HDL cholesterol levels since childhood: the Bogalusa Heart Study
      Chen W, Srinivasan SR, Boerwinkle E, Berenson GS
      Ref: Atherosclerosis, 169:175, 2003 : PubMed


      Title: Hepatic lipase C514T polymorphism and its relationship with plasma HDL-C levels and coronary artery disease in Koreans
      Park KW, Choi JH, Chae IH, Cho HJ, Oh S, Kim HS, Lee MM, Park YB, Choi YS
      Ref: J Biochem Mol Biol, 36:237, 2003 : PubMed


      Title: Interaction effect of Serine447Stop variant of the lipoprotein lipase gene and C-514T variant of the hepatic lipase gene on serum triglyceride levels in young adults: the Bogalusa Heart Study
      Xin X, Srinivasan SR, Chen W, Boerwinkle E, Berenson GS
      Ref: Metabolism, 52:1337, 2003 : PubMed


      Title: Contribution of hepatic lipase, lipoprotein lipase, and cholesteryl ester transfer protein to LDL and HDL heterogeneity in healthy women
      Carr MC, Ayyobi AF, Murdoch SJ, Deeb SS, Brunzell JD
      Ref: Arterioscler Thromb Vasc Biol, 22:667, 2002 : PubMed


      Title: Hepatic lipase gene -514 C/T polymorphism and premature coronary heart disease
      Ji J, Herbison CE, Mamotte CD, Burke V, Taylor RR, van Bockxmeer FM
      Ref: J Cardiovasc Risk, 9:105, 2002 : PubMed


      Title: Dietary fat intake determines the effect of a common polymorphism in the hepatic lipase gene promoter on high-density lipoprotein metabolism: evidence of a strong dose effect in this gene-nutrient interaction in the Framingham Study
      Ordovas JM, Corella D, Demissie S, Cupples LA, Couture P, Coltell O, Wilson PW, Schaefer EJ, Tucker KL
      Ref: Circulation, 106:2315, 2002 : PubMed


      Title: Genetic and environmental determinants of plasma high density lipoprotein cholesterol and apolipoprotein AI concentrations in healthy middle-aged men
      Talmud PJ, Hawe E, Robertson K, Miller GJ, Miller NE, Humphries SE
      Ref: Ann Hum Genet, 66:111, 2002 : PubMed


      Title: Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population
      Inazu A, Nishimura Y, Terada Y, Mabuchi H
      Ref: J Hum Genet, 46:172, 2001 : PubMed


      Title: Effects of gender, hepatic lipase gene polymorphism and type 2 diabetes mellitus on hepatic lipase activity in Chinese
      Tan KC, Shiu SW, Chu BY
      Ref: Atherosclerosis, 157:233, 2001 : PubMed


      Title: Association of the C-514T polymorphism in the hepatic lipase gene with variations in lipoprotein subclass profiles: The Framingham Offspring Study
      Couture P, Otvos JD, Cupples LA, Lahoz C, Wilson PW, Schaefer EJ, Ordovas JM
      Ref: Arterioscler Thromb Vasc Biol, 20:815, 2000 : PubMed


      Title: The C-514T polymorphism in the human hepatic lipase gene promoter diminishes its activity
      Deeb SS, Peng R
      Ref: J Lipid Res, 41:155, 2000 : PubMed


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