Ser(447stop) mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 17, Issue 3, 1997, Pages 595-599

  Kuivenhoven, Jan Albert ^a,d   Groenemeyer, Björn E ^a   Boer, Jolanda M A ^b   Reymer, Paul W A ^a   Berghuis, Riteke ^a   Bruin, Taco ^a   Jansen, Hans ^c   Seidell, Jacob C ^b   Kastelein, John J P ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^c ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

coronary artery disease; high density lipoprotein; lipoprotein lipase; polymorphism; restriction fragment length polymorphism

Indexed keywords

ADULT; ALLELE; ARTICLE; ATHEROSCLEROSIS; CONTROLLED STUDY; CORONARY ARTERY DISEASE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HUMAN; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; BLOOD; DENMARK; GENETICS; MIDDLE AGED; POINT MUTATION;

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPOPROTEIN LIPASE; SERINE;

ADULT; CHOLESTEROL, HDL; DENMARK; GENE FREQUENCY; HUMANS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; POINT MUTATION; SERINE;

EID: 0030615232     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.17.3.595     Document Type: Article

References (16)

1. Miller NE, Thelle DS, Forde OH, Mjos OD. The Tromso Heart Study: high-density lipoprotein and coronary heart disease - a prospective case-control study. Lancet. 1977;1:965-968.
2. Gordon T, Castelli WP, Hjortland MC, Kannel WB, Dawber TR. High density lipoprotein as a protective factor against coronary heart disease: the Framingham Heart Study. Am J Med. 1977;62:707-714.
3. Assmann G, Schulte H, Oberwitter W, Hause WH. New aspects in the prediction of coronary artery disease: the Prospective Cardiovascular Muenster Study. In: Fidge NH, Nestel PJ, eds. Atherosclerosis VII. Amsterdam, Netherlands: Elsevier Science Publishers; 1986:19-24.
4. Paszty C, Maeda N, Verstuyft J, Rubin EM. Apolipoprotein AI transgene corrects apolipoprotein E deficiency-induced atherosclerosis in mice. J Clin Invest. 1994;94:899-903.
5. Rubin EM, Krauss RM, Spangler EA, Verstuyft JG, Clift SM. Inhibition of early atherogenesis in transgenic mice by human apolipoprotein AI. Nature. 1991;353:265-267.
6. Schultz JR, Verstuyft JG, Gong EL, Nichols AV, Rubin EM. Protein composition determines the anti-atherogenic properties of HDL in transgenic mice. Nature. 1993;365:762-764.
7. Rader DJ, Ikewaki K, Duverger N, Feuerstein I, Zech L, Connor W, Brewer HB Jr. Very low high-density lipoproteins without coronary atherosclerosis. Lancet. 1993;342:1455-1458.
8. Breslow JL. Familial disorders of high density lipoprotein metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. Metabolic Basis of Inherited Disease. New York, NY: McGraw-Hill Inc; 1989;49:1251-1266.
9. Reymer PWA, Gagné E, Groenemeyer BE, Zhang H, Forsyth I, Jansen H, Seidell JC, Kromhout D, Lie KE, Kastelein JJP, Hayden MR. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet. 1995;10:28-34.
10. Funke H, Wiebusch H, Fuer L, Muntoni S, Schulte H, Assmann G. Identification of mutations in the cholesterol ester transfer protein in Europeans with elevated high density lipoprotein cholesterol. Circulation. 1994;90:1296. Abstract.
11. Sakai N, Yamashita S, Hirano K, Menju M, Arai T, Kobayashi K, Ishigami M, Yoshida Y, Hoshino T, Nakajima N, Kameda-Takemura K, Matsuzawa Y. Frequency of exon 15 missense mutation (442D:G) in cholesteryl ester transfer protein gene in hyperalphalipoproteinemic Japanese subjects. Atherosclerosis. 1995;114:139-145.
12. Brown ML, Inazu A, Hesler CB, Agellon LB, Mann C, Whitlock ME, Marcel YL, Milne RW, Koizumi J, Mabuchi H, Takeda R, Tall AR. Molecular basis of lipid transfer protein deficiency in a family with increased high-density lipoproteins. Nature. 1989;342:448-451.
13. de Knijff P, van den Maagdenberg AMJM, Frants RR, Havekes L. Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels. Hum Mutat. 1994;4:178-194.
14. Hata A, Robertson M, Emi M, Lalouel J. Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase. Nucleic Acids Res. 1990;18:5407-5411.
15. Chamberlain JC, Thorn JA, Oka K, Galton DJ, Stocks J. DNA polymorphisms at the lipoprotein lipase gene: associations in normal and hypertriglyceridaemic subjects. Atherosclerosis. 1989;79:85-91.
16. Ahn YI, Kamboh MI, Hamman RF, Cole SA, Ferrell RE. Two DNA polymorphisms in the lipoprotein lipase gene and their associations with factors related to cardiovascular disease. J Lipid Res. 1993;34:421-428.