Analysis of lipoprotein lipase haplotypes reveals associations not apparent from analysis of the constituent loci

Annals of Human Genetics

Volumn 63, Issue 6, 1999, Pages 499-510

  Hallman, D Michael ^a   Groenemeijer, B E ^b   Jukema, J W ^c   Boerwinkle, E ^d   Kastelein, J J P ^b  

^a TULANE UNIVERSITY   (United States)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ARTICLE; CHOLESTEROL BLOOD LEVEL; CORONARY ARTERY ATHEROSCLEROSIS; ENZYME ACTIVITY; HAPLOTYPE; HUMAN; LIPID BLOOD LEVEL; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TRIACYLGLYCEROL BLOOD LEVEL;

AGED; ALLELES; CORONARY ARTERIOSCLEROSIS; GENE FREQUENCY; HAPLOTYPES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LIPIDS; LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; NETHERLANDS; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 0033504944     PISSN: 00034800     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-1809.1999.6360499.x     Document Type: Article

References (52)

1. ALLAIN, C. C., POON, L. S., CHAN, C. S. G., RICHMOND, W. & FU, P. C. (1974). Enzymatic determination of total serum cholesterol. Clin. Chem. 20, 470-475.
2. ANON, (1989). Technical Tips: An efficient salt-chloroform extraction of DNA from blood and tissues. Trends in Genetic 5, 391.
3. BABIRAK, S. P., IVERIUS, P.-H., FUJIMOTO, W. Y. & BRUNZELL, J. D. (1989). Detection and characterization of the heterozygote state for lipoprotein lipase deficiency. Arteriosclerosis 9, 326-334.
4. BEISIEGEL, U. (1996). New aspects on the role of plasma lipases in lipoprotein catabolism and atherosclerosis. Atherosclerosis 124, 1-8.
5. BEISIEGEL, U., WEBER, W. & BENGTSSON-OLIVECRONA, G. (1991). Lipoprotein lipase enhances the binding of chylomicrons to low density lipoprotein receptor-related protein. Proc. Natl. Acad. Sci. USA 88, 8342-8346.
6. BRUIN, T., REYMER, P. W. A., GROENEMEYER, B. E., TALMUD, P. J. & KASTELEIN, J. J. (1991). HindIII-polymorphism in the LPL-gene detected by PCR. Nucl. Acids Res. 19, 6346.
7. BRUNZELL, J. D. (1995). Familial lipoprotein lipase deficiency and other causes of the chylomieronemia syndrome. In The metabolic and molecular bases of inherited disease. 7th ed. Vol. II (ed. C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle), pp. 1913-1932. New York: McGraw-Hill, Inc.
8. BUCCOLO, G. & DAVID, H. (1973). Quantitative determination of serum triglycerides by the use of enzymes. Clin. Chem. 19, 476-482.
9. CHAMBERLAIN, J. C., THORN, J. A., OKA, K., GALTON, D. J. & STOCKS, J. (1989). DNA polymorphisms at the lipoprotein lipase gene: associations in normal and hypertriglyceridemic subjects. Atherosclerosis 79, 85-91.
10. CLARK, A. G. (1990). Inference of haplotypes from PCR-amplified samples of diploid populations. Mol. Biol. Erol. 7, 111-122.
11. CLARK, A. G., WEISS, K. M., NlCKERSON, D. A., TAYLOR, S. L., BUCHANAN, A., STENGÅRD, J., SALOMAA, V., VARTIAINEN, E., PEROLA, M., BOERWINKLE, E. & SING. C. F. (1998). Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am. J. Hum. Genet. 63, 595-612.
12. CROSS, S. R. H. & BIRLEY, A. J. (1986). Restriction endonuclease map variation in the Adh region in populations of Drosophila melanogaster. Biochem. Genet. 24, 415-433.
13. DE BEER, F., HENDRIKS, W. L., VAN VARK, L. C., KAMERLlNG, S. W. A., VAN DIJK, K. W., HOFKER, M. H., SMELT, A. H. M. & HAVEKES, L. M. (1999). Binding of β-VLDL to heparan sulfate proteoglycans requires lipoprotein lipase, whereas apoE only modulates binding affinity. Arterioscler. Thromb. Vasc. Biol. 19, 633-637.
14. EDGINGTON, E. S. (1995). Randomization tests. 3rd ed. NY: Marcel Dekker, Inc.
15. 447 → Ter) in a Turkish family. J. Biol. Chem. 266, 14418-14424.
16. FISHER, K. L., FITZGERALD, G. A. & LAWN, R. (1987). Two polymorphisms in the human lipoprotein lipase (LPL) gene. Nucl. Acids Res. 15, 7567.
17. FlSHER, R. A. (1930). The Genetical Theory of Natural Selection. Oxford: Clarendon Press.
18. FRIEDEWALD, W. T., LEVY, R. I. & FREDRICKSON, D. S. (1972). Estimation of the concentration of low-density lipoprotein in plasma, without use of the preparative ultracentrifuge. Clin. Chem. 18, 499-502.
19. GARFINKEL, A. S. & SCHOTZ, M. C. (1987). Lipoprotein lipase. In Plasma Lipoproteins (ed. A. M. Gotto Jr.), pp. 335-357. New York: Elsevier.
20. GOLDBERG, I. J. (1996). Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis. J. Lipid Res. 37, 693-707.
21. HATA, A., ROBERTSON, M., EMI, M. & LALOUEL, J. M. (1990). 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 gene. Nucl. Acids Res. 18, 5407-5410.
22. HEINZMANN, C., LADIAS, J., ANTONARAKIS, S., KIRCHGESSNER, T., SCHOTZ, M. C. & LUSIS, A. J. (1987). RFLP for the human lipoprotein lipase (LPL) gene: HindIII. Nucl. Acids Res. 15, 6763.
23. HEINZMANN, C., KIRCHGESSNER, T., KWITEROVICH, P. O., LADIAS, J. A., DERBY, C., ANTONARAKIS, S. E. & LUSIS, A. J. (1991). DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels. Hum. Genet. 86, 578-584.
24. HUMPHRIES, S. E., NICAUD, V., MARGALEF, J., TIRET, L., TALMUD, P. J. & FOR THE EARS (1998). Lipoprotein lipase gene variation is associated with a paternal history of premature coronary artery disease and fasting and postprandial plasma triglycerides. The European Atherosclerosis Research Study (EARS). Arterioscler. Thromb. Vasc. Biol. 18, 526-534.
25. JOHNSON, J. P., NISHINA, P. M. & NAGGERT, J. K. (1990). PCR assay for a polymorphic PvuII site in the LPL gene. Nucl. Acids Res. 18, 7469.
26. JUKEMA, J. W., BRUSCHKE, A. V. G., VAN BOVEN, A., REIBER, J. H. C., BAL, E. T., ZWINDERMAN, A. H., JANSEN, H., BOERMA, G. J. M., VAN RAPPARD, F. M. & LIE, K. I. (1995). Effects of lipid lowering by pravastatin on progression and regression of coronary artery disease in symptomatic men with normal to moderately elevated serum cholesterol levels. The Regression Growth and Elevation Statin Study (REGRESS). Circulation 91, 2528-2540.
27. 447 → a stop codon) in lipoprotein lipase contributes to a defect in lipid interface recognition in a case with type I hyperlipidemia, Biochem. Biophys. Res. Comm. 182, 70-77.
28. KOZAKI, K., GOTODA, T., KAWAMURA, M., SHIMANO, H., YAZAKI, Y., OUCHI, Y., ORIMO, H. & YAMADA, N. (1993). Mutational analysis of human lipoprotein lipase by carboxy-terminal truncation. J. Lipid Res. 34, 1765-1772.
29. 447stop mutation in lipoprotein lipase is associated with elevated HDL cholesterol levels in normolipidemic males. Arterioscler. Thromb. Vasc. Biol. 17, 595-099.
30. LATHROP, G. M., LALOUEL, J. M., JULIER, C. & OTT, J. (1984). Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446.
31. LEWONTIN, R. C. (1964). The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49, 49-67.
32. MATTU, R. K., NEEDHAM, E. W. A., MORGAN, R., REES. A., HACKSHAW, A. K., STOCKS, J., ELWOOD, P. C. & GALTON, D. J. (1994). DNA variants at the LPL gene locus associate with angiographically defined severity of atherosclerosis and serum lipoprotein levels in a Welsh population. Arterioscler. Thromb. 14, 1090-1097.
33. MITCHELL, R. J., EARL, L., BRAY, P., FRIPP, Y. J. & WILLIAMS, J. (1994). DNA polymorphisms at the lipoprotein lipase gene and their association with quantitative variation in plasma high-density lipoproteins and triacylglycerides. Hum. Biol. 66, 383-397.
34. NYKJÆR, A., NIELSEN, M., LOOKENE, A., MEYER, N., RØIGAARD, H., ETZERODT, M., BEISIEGEL, U., OLIVECRONA, G. & GLIEMANN, J. (1994). A carboxyl-terminal fragment of lipoprotein lipase binds to the low density lipoprotein receptor-related protein and inhibits lipase-mediated uptake of lipoprotein in cells. J. Biol. Chem. 269, 31747-31755.
35. OKA, K., TKALCEVIC, G. T., STOCKS, J., GALTON, D. J. & BROWN, W. V. (1989). Nucleotide sequence of PvuII polymorphic site at the human lipoprotein lipase gene locus. Nucl. Acids Res. 17, 6752.
36. OLIVECRONA, G. & OLIVECRONA, T. (1995). Triglyceride lipases and atherosclerosis. Curr. Opinion Lipidol. 6, 291-305.
37. PEACOCK, R. E., HAMSTEN, A., NILSSON-EHLE, P. & HUMPHRIES, S. E. (1992). Associations between lipoprotein lipase gene polymorphisms and plasma correlations of lipids, lipoproteins and lipase activities in young myocardial infarction survivors and age-matched healthy individuals from Sweden. Atherosclerosis 97, 171-185.
38. 410 → Val) leads to enzyme inactivation and familial chylomicronemia. J. Lipid Res. 35, 1552-1560.
39. REYMER, P. W. A., GAGNÉ, E., GROENEMEYER, B. E., ZHANG, H., FORSYTH, I., JANSEN, H., SEIDELL, J. C., KROMHOUT, D., LIE, K. E., KASTELEIN, J. & HAYDEN, M. R. (1995). A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat, Genet. 10, 28-34.
40. SALINELLI, S., LO, J.-Y., MIMS, M. P., ZSIGMOND, E., SMITH, L. C. & CHAN, L. (1996). Structure-function relationship of lipoprotein lipase-mediated enhancement of very low density lipoprotein binding and catabolism by the low density lipoprotein receptor. Functional importance of a properly folded surface loop covering the catalytic center. J. Biol. Chem. 271. 21906-21913.
41. SAS INSTITUTE, I. (1996). SAS release 6.12. Cary, NC. SIMON, J. L. & BRUCE, P. C. (1991). Resampling Stats version 3.0. Arlington, VA.
42. SKOTTOVA, N., SAVONEN, R., LOOKENE, A., HULTIN, M. & OLIVECRONA, G. (1995). Lipoprotein lipase enhances removal of chylomicrons and chylomicron remnants by the perfused rat liver. J. Lipid Res. 36, 1334-1344.
43. STOCKS, J., THORN, J. A. & GALTON, D. J. (1992). Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion. J. Lipid Res. 33, 853-857.
44. TAKAHASHI, S., SUZUKI, J., KOHNO, M., OIDA, K., TAMAI, T., MIYABO, S., YAMAMOTO, T. & NAKAI, T. (1995). Enhancement of the binding of triglyceride-rich lipoproteins to the very low density lipoprotein receptor by apoliporotein E and lipoprotein lipase. J. Biol. Chem. 270, 15747-15754.
45. TEMPLETON, A. R., BOERWINKLE, E. & SING, C. F. (1987). A cladistic analysis of phenotypic associations with haplotypes inferred from restriction endonuclease mapping. I. Basic theory and an analysis of alcohol dehydrogenase activity in Drosophila. Genetics 117, 343-351.
46. TEMPLETON, A. R., SING, C. F., KESSLING, A. & HUMPHRIES, S. (1988). A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations, Genetics 120, 1145-1154.
47. TERWILLIGER, J. D. & OTT. J. (1994). Handbook of Human Genetic Linkage. Baltimore: Johns Hopkins University Press.
48. THORN, J. A., CHAMBERLAIN, J. C., ALCOLADO, J. C., OKA, K., CHAN, L., STOCKS, J. & GALTON, D. J. (1990). Lipoprotein and hepatic lipase gene variants in coronary atherosclerosis. Atherosclerosis 85, 55-60.
49. 2+ quantification of high-density lipoprotein cholesterol: an ultrafiltration procedure for lipidemic couples. Clin. Chem. 24, 900-904.
50. WEIR, B. S. (1990). Genetic data analysis. Methods for discrete population genetic data. Sunderland. MA: Sinauer Associates. Inc.
51. XIE, X., TERWILLIGER, J. & OTT, J. (1994). User's guide to the EH program. New York State Psychiatric Institute and Columbia University. New York.
52. ZHANG, Q., CAVANNA, J., WINKELMAN, B. R., SHINE, B., GROSS, W., MARZ, W. & GALTON, D. J. (1995). Common genetic variants of lipoprotein lipase that relate to lipid transport in patients with premature coronary artery disease. Clin. Genet. 48, 293-298.