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Mutation Report for: Prom-480T_human-LIPC

Gene_Locushuman-LIPC Amino Acid change Torpedo number
Mode of mutationNatural mutant
Kinetic parametersnone
Summary
    CommentThe C-->T(-480) allele is associated with lower HL -480C/T
    References
      Title: Age-dependent association between hepatic lipase gene C-480T polymorphism and the risk of pre-hospital sudden cardiac death: the Helsinki Sudden Death Study
      Fan YM, Lehtimaki T, Rontu R, Ilveskoski E, Goebeler S, Kajander O, Mikkelsson J, Perola M, Karhunen PJ
      Ref: Atherosclerosis, 192:421, 2007 : PubMed

              

      Title: The influence of hepatic lipase C-480T polymorphism on coronary flow reserve in young men is independent of the plasma cholesterol level
      Fan YM, Laaksonen R, Janatuinen T, Vesalainen R, Laine H, Raitakari OT, Nuutila P, Knuuti J, Rontu R, Lehtimaki T
      Ref: Atherosclerosis, 188:391, 2006 : PubMed

              

      Title: The C-480T hepatic lipase polymorphism is associated with HDL-C but not with risk of coronary heart disease
      McCaskie PA, Cadby G, Hung J, McQuillan BM, Chapman CM, Carter KW, Thompson PL, Palmer LJ, Beilby JP
      Ref: Clin Genet, 70:114, 2006 : PubMed

              

      Title: The -250G-->A polymorphism in the human hepatic lipase gene promoter affects blood lipids in Chinese
      Zhao S, Xie X, Nie S
      Ref: Clinica Chimica Acta, 365:149, 2006 : PubMed

              

      Title: Interactions of dietary fat intake and the hepatic lipase -480C-->T polymorphism in determining hepatic lipase activity: the Hoorn Study
      Bos G, Dekker JM, Feskens EJ, Ocke MC, Nijpels G, Stehouwer CD, Bouter LM, Heine RJ, Jansen H
      Ref: Am J Clin Nutr, 81:911, 2005 : PubMed

              

      Title: Hepatic lipase C-480T genotype-dependent benefit from long-term hormone replacement therapy for atherosclerosis progression in postmenopausal women
      Fan YM, Dastidar P, Jokela H, Punnonen R, Lehtimaki T
      Ref: J Clinical Endocrinology Metab, 90:3786, 2005 : PubMed

              

      Title: Influence of common variants in the CETP, LPL, HL and APO E genes on LDL heterogeneity in healthy, middle-aged men
      Skoglund-Andersson C, Ehrenborg E, Fisher RM, Olivecrona G, Hamsten A, Karpe F
      Ref: Atherosclerosis, 167:311, 2003 : PubMed

              

      Title: Polymorphism of HL +1075C, but not -480T, is associated with plasma high density lipoprotein cholesterol and apolipoprotein AI in men of a Chinese population
      Fang DZ, Liu BW
      Ref: Atherosclerosis, 161:417, 2002 : PubMed

              

      Title: A common promoter polymorphism in the hepatic lipase gene (LIPC-480C>T) is associated with an increase in coronary calcification in type 1 diabetes
      Hokanson JE, Cheng S, Snell-Bergeon JK, Fijal BA, Grow MA, Hung C, Erlich HA, Ehrlich J, Eckel RH, Rewers M
      Ref: Diabetes, 51:1208, 2002 : PubMed

              

      Title: Hepatic lipase promoter activity is reduced by the C-480T and G-216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor
      Botma GJ, Verhoeven AJ, Jansen H
      Ref: Atherosclerosis, 154:625, 2001 : PubMed

              

      Title: Hepatic lipase gene variation is related to coronary reactivity in healthy young men
      Fan Y, Laaksonen R, Janatuinen T, Vesalainen R, Nuutila P, Koivula T, Knuuti J, Lehtimaki T
      Ref: European Journal of Clinical Investigation, 31:574, 2001 : PubMed

              

      Title: Polymorphisms in the lipoprotein lipase and hepatic lipase genes and plasma lipid values in the Czech population
      Hubacek JA, Waterworth DM, Pitha J, Humphries SE, Talmud PJ, Poledne R
      Ref: Physiol Res, 50:345, 2001 : PubMed

              

      Title: Absence of association between genetic variation in the LIPC gene promoter and plasma lipoproteins in three Canadian populations
      Hegele RA, Harris SB, Brunt JH, Young TK, Hanley AJ, Zinman B, Connelly PW
      Ref: Atherosclerosis, 146:153, 1999 : PubMed

              

      Title: The T allele of the hepatic lipase promoter variant C-480T is associated with increased fasting lipids and HDL and increased preprandial and postprandial LpCIII:B : European Atherosclerosis Research Study (EARS) II
      Jansen H, Chu G, Ehnholm C, Dallongeville J, Nicaud V, Talmud PJ
      Ref: Arterioscler Thromb Vasc Biol, 19:303, 1999 : PubMed

              

      Title: Common C-to-T substitution at position -480 of the hepatic lipase promoter associated with a lowered lipase activity in coronary artery disease patients
      Jansen H, Verhoeven AJ, Weeks L, Kastelein JJ, Halley DJ, van den Ouweland A, Jukema JW, Seidell JC, Birkenhager JC
      Ref: Arterioscler Thromb Vasc Biol, 17:2837, 1997 : PubMed

              


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