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Disease Report for: Hepatic triglyceride lipase Deficiency

Alternative name(s)|LIPC Deficiency
HL Deficiency
High density lipoprotein cholesterol level quantitative trait locus 12,HDLCQ12
Mutation|12 mutations (e.g. : A196T_human-LIPC, G141S_human-LIPC, G248V_human-LIPC... more)
OMIM: |151670, 246650, 614025, 612797, 125853

LIPC, which is synthesized in liver, is secreted and bound to hepatocytes and hepatic endothelial surfaces via heparin sulfate proteoglycans (HSPGs). Active LIPC exists as a homodimer and has broad substrate specificity, catalyzing the hydrolysis of fatty acyl chains at the sn-1 position of phospholipids and of mono-, di-, and triacylglycerols associated with a variety of lipoproteins, including high density lipoprotein (HDL). LIPC may also facilitate binding and uptake of lipoproteins and selective uptake of cholesteryl esters from lipoproteins (summary by Brown et al., 2004). (from OMIM) A Deficiency of HL is characterized by abnormally triglyceride-rich low and high density lipoproteins as well as beta-migrating very low density lipoproteins. Familial human hepatic lipase deficiency is a rare recessive disorder that results from mutation in position 405 of the mature protein. The disease is characterised by premature atherosclerosis and abnormal circulating lipoproteins.

    Title: Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride
    Buonuomo PS, Rabacchi C, Macchiaiolo M, Trenti C, Fasano T, Tarugi P, Bartuli A, Bertolini S, Calandra S
    Ref: J Clin Lipidol, 11:1329, 2017 : PubMed


    Title: The Contribution of GWAS Loci in Familial Dyslipidemias
    Ripatti P, Ramo JT, Soderlund S, Surakka I, Matikainen N, Pirinen M, Pajukanta P, Sarin AP, Service SK and Ripatti S <7 more author(s)>
    Ref: PLoS Genet, 12:e1006078, 2016 : PubMed


    Title: Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia
    Plengpanich W, Tongkobpetch S, Shotelersuk V, Le Goff W, Khovidhunkit W
    Ref: Clinica Chimica Acta, 416:92, 2013 : PubMed


    Title: Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia
    Khovidhunkit W, Chartyingcharoen P, Siriwong S, Limumpornpetch P, Plengpanich W
    Ref: American Journal of Cardiology, 110:62, 2012 : PubMed


    Title: Hepatic lipase deficiency in a Middle-Eastern-Arabic male.
    Al Riyami N, Al-Ali AM, Al-Sarraf AJ, Hill J, Sachs-Barrable K, Hegele R, Wasan KM, Frohlich J
    Ref: BMJ Case Rep, :, 2010 : PubMed


    Title: Two novel mutations and functional analyses of the CETP and LIPC genes underlying severe hyperalphalipoproteinemia
    Plengpanich W, Siriwong S, Khovidhunkit W
    Ref: Metabolism, 58:1178, 2009 : PubMed


    Title: Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension
    Kokubo Y, Tomoike H, Tanaka C, Banno M, Okuda T, Inamoto N, Kamide K, Kawano Y, Miyata T
    Ref: Hypertens Res, 29:611, 2006 : PubMed


    Title: Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency
    Ruel IL, Lamarche B, Mauger JF, Badellino KO, Cohn JS, Marcil M, Couture P
    Ref: Arterioscler Thromb Vasc Biol, 25:2600, 2005 : PubMed


    Title: Lipoprotein metabolism in subjects with hepatic lipase deficiency
    Tilly-Kiesi M, Schaefer EJ, Knudsen P, Welty FK, Dolnikowski GG, Taskinen MR, Lichtenstein AH
    Ref: Metabolism, 53:520, 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: Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors
    Morabia A, Cayanis E, Costanza MC, Ross BM, Flaherty MS, Alvin GB, Das K, Gilliam TC
    Ref: Hum Mol Genet, 12:2733, 2003 : PubMed


    Title: Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians
    Ruel IL, Couture P, Gagne C, Deshaies Y, Simard J, Hegele RA, Lamarche B
    Ref: J Lipid Res, 44:1508, 2003 : 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: 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: 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: 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: 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: 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


    Title: The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia
    Hoffer MJ, Snieder H, Bredie SJ, Demacker PN, Kastelein JJ, Frants RR, Stalenhoef AF
    Ref: Atherosclerosis, 151:443, 2000 : PubMed


    Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes
    Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP and Lander ES <8 more author(s)>
    Ref: Nat Genet, 22:231, 1999 : 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: The role of hepatic lipase in lipoprotein metabolism
    Connelly PW
    Ref: Clinica Chimica Acta, 286:243, 1999 : 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 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


    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


    Title: Heterozygous hepatic lipase deficiency, due to two missense mutations R186H and L334F, in the HL gene
    Knudsen P, Antikainen M, Uusi-Oukari M, Ehnholm S, Lahdenpera S, Bensadoun A, Funke H, Wiebusch H, Assmann G and Ehnholm C <1 more author(s)>
    Ref: Atherosclerosis, 128:165, 1997 : PubMed


    Title: Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency
    Hegele RA, Little JA, Connelly PW
    Ref: Biochemical & Biophysical Research Communications, 179:78, 1991 : PubMed


    Title: A hepatic lipase gene mutation associated with heritable lipolytic deficiency
    Hegele RA, Vezina C, Moorjani S, Lupien PJ, Gagne C, Brun LD, Little JA, Connelly PW
    Ref: J Clinical Endocrinology Metab, 72:730, 1991 : PubMed


    Title: Isolation and characterization of the human hepatic lipase gene
    Ameis D, Stahnke G, Kobayashi J, McLean J, Lee G, Buscher M, Schotz MC, Will H
    Ref: Journal of Biological Chemistry, 265:6552, 1990 : PubMed


    Title: Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family
    Auwerx JH, Babirak SP, Hokanson JE, Stahnke G, Will H, Deeb SS, Brunzell JD
    Ref: American Journal of Human Genetics, 46:470, 1990 : PubMed


    Title: Combined lipase deficiency in the mouse. Evidence of impaired lipase processing and secretion
    Davis RC, Ben-Zeev O, Martin D, Doolittle MH
    Ref: Journal of Biological Chemistry, 265:17960, 1990 : PubMed


    Title: Structure of the human hepatic triglyceride lipase gene
    Cai SJ, Wong DM, Chen SH, Chan L
    Ref: Biochemistry, 28:8966, 1989 : PubMed


    Title: Three RFLPs at the human hepatic lipase locus. (Abstract)
    Stocks J, Li SR, Thorn J, Chan L, Galton DJ
    Ref: Cytogenet Cell Genet, 55:1086, 1989 : PubMed


    Title: Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase
    Datta S, Luo CC, Li WH, VanTuinen P, Ledbetter DH, Brown MA, Chen SH, Liu SW, Chan L
    Ref: Journal of Biological Chemistry, 263:1107, 1988 : PubMed


    Title: Two polymorphisms for the human hepatic lipase (HL) gene
    Heinzmann C, Ladias J, Antonarakis S, Diep A, Schotz M, Lusis AJ
    Ref: Nucleic Acids Research, 16:4739, 1988 : PubMed


    Title: Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase
    Martin GA, Busch SJ, Meredith GD, Cardin AD, Blankenship DT, Mao SJ, Rechtin AE, Woods CW, Racke MM and Jackson RL <4 more author(s)>
    Ref: Journal of Biological Chemistry, 263:10907, 1988 : PubMed


    Title: Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21
    Sparkes RS, Zollman S, Klisak I, Kirchgessner TG, Komaromy MC, Mohandas T, Schotz MC, Lusis AJ
    Ref: Genomics, 1:138, 1987 : PubMed


    Title: Deficiency of hepatic lipase activity in post-heparin plasma in familial hyper-alpha-triglyceridemia
    Carlson LA, Holmquist L, Nilsson-Ehle P
    Ref: Acta Med Scand, 219:435, 1986 : PubMed


    Title: Familial hepatic lipase deficiency
    Little JA, Connelly PW
    Ref: Advances in Experimental Medicine & Biology, 201:253, 1986 : PubMed


    Title: Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase
    Breckenridge WC, Little JA, Alaupovic P, Wang CS, Kuksis A, Kakis G, Lindgren F, Gardiner G
    Ref: Atherosclerosis, 45:161, 1982 : PubMed


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