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Mutation Report for: Prom-250A_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    CommentThe G-->A(-250) allele is associated with lower HL -250G/A
    References
      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: [Association of the hepatic lipase gene -250G/A promoter polymorphism with the susceptibility to type 2 diabetes mellitus combining with coronary heart disease]
      Wei M, Lu YS, Li PP
      Ref: Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 26:219, 2009 : PubMed

              

      Title: The -250G/A polymorphism in the hepatic lipase gene promoter influences the postprandial lipemic response in healthy men
      Jimenez-Gomez Y, Perez-Jimenez F, Marin C, Gomez P, Moreno R, Delgado J, Perez-Martinez P, Gomez MJ, Lopez-Miranda J
      Ref: Nutr Metab Cardiovasc Dis, 18:173, 2008 : PubMed

              

      Title: Association of the -250G/A promoter polymorphism of the hepatic lipase gene with the risk of peripheral arterial disease in type 2 diabetic patients
      Valdivielso P, Ariza MJ, de la Vega-Roman C, Gonzalez-Alegre T, Rioja J, Ulzurrun E, Gonzalez-Santos P
      Ref: J Diabetes Complications, 22:273, 2008 : PubMed

              

      Title: Hepatic lipase polymorphism and increased risk of peripheral arterial disease
      Eller P, Schgoer W, Mueller T, Tancevski I, Wehinger A, Ulmer H, Foeger B, Haltmayer M, Ritsch A, Patsch JR
      Ref: J Intern Med, 258:344, 2005 : PubMed

              

      Title: The G-250A substitution in the promoter region of the hepatic lipase gene is associated with the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial
      Zacharova J, Todorova BR, Chiasson JL, Laakso M
      Ref: J Intern Med, 257:185, 2005 : PubMed

              

      Title: The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish Diabetes Prevention Study
      Todorova B, Kubaszek A, Pihlajamaki J, Lindstrom J, Eriksson J, Valle TT, Hamalainen H, Ilanne-Parikka P, Keinanen-Kiukaanniemi S and Laakso M <2 more author(s)>
      Ref: J Clinical Endocrinology Metab, 89:2019, 2004 : PubMed

              

      Title: Association between -250G/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL-C levels in a Southern Brazilian population
      de Andrade FM, Silveira FR, Arsand M, Antunes AL, Torres MR, Zago AJ, Callegari-Jaques SM, Hutz MH
      Ref: Clin Genet, 65:390, 2004 : PubMed

              

      Title: G-250A substitution in promoter of hepatic lipase gene is associated with dyslipidemia and insulin resistance in healthy control subjects and in members of families with familial combined hyperlipidemia
      Pihlajamaki J, Karjalainen L, Karhapaa P, Vauhkonen I, Taskinen MR, Deeb SS, Laakso M
      Ref: Arterioscler Thromb Vasc Biol, 20:1789, 2000 : PubMed

              

      Title: A hepatic lipase gene promoter polymorphism attenuates the increase in hepatic lipase activity with increasing intra-abdominal fat in women
      Carr MC, Hokanson JE, Deeb SS, Purnell JQ, Mitchell ES, Brunzell JD
      Ref: Arterioscler Thromb Vasc Biol, 19:2701, 1999 : PubMed

              

      Title: Common variants in the promoter of the hepatic lipase gene are associated with lower levels of hepatic lipase activity, buoyant LDL, and higher HDL2 cholesterol
      Zambon A, Deeb SS, Hokanson JE, Brown BG, Brunzell JD
      Ref: Arterioscler Thromb Vasc Biol, 18:1723, 1998 : PubMed

              


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    Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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