LPL promoter - 93T/G transition influences fasting and postprandial plasma triglycerides response in African-Americans and hispanics

Journal of Lipid Research

Volumn 39, Issue 6, 1998, Pages 1189-1196

  Talmud, Philippa J ^a   Hall, Stephen ^a   Holleran, Steve ^b   Ramakrishnan, Rajasekhar ^b   Ginsberg, Henry N ^b   Humphries, Steve E ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b New York Presbyterian Hospital Columbia University Medical Center   (United States)

Author keywords

African Americans; Hispanics; LPL promoter variant; Plasma Tg levels; Postprandial response

Indexed keywords

LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; ARTICLE; CARDIOVASCULAR RISK; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE STRUCTURE; GENETIC PREDISPOSITION; HUMAN; LIPID BLOOD LEVEL; LIPID METABOLISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROMOTER REGION; RACE DIFFERENCE; TRIACYLGLYCEROL BLOOD LEVEL;

ADULT; AFRICAN AMERICANS; AFRICAN CONTINENTAL ANCESTRY GROUP; AGED; FASTING; FEMALE; GENOTYPE; GUANINE; HAPLOTYPES; HISPANIC AMERICANS; HUMANS; LINKAGE DISEQUILIBRIUM; LIPOPROTEIN LIPASE; MALE; METABOLIC CLEARANCE RATE; MIDDLE AGED; NEW YORK CITY; POINT MUTATION; POSTPRANDIAL PERIOD; PROMOTER REGIONS (GENETICS); THYMINE; TRIGLYCERIDES;

EID: 0031810538     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Semenkovich, C. F., M. Wims, L. Noe, J. Etienne, and L. Chan. 1989. Insulin regulation of lipoprotein lipase activity in 3T3-L1 adipocytes is mediated at posttranscriptional and posttranslational levels. J. Biol. Chem. 264: 9030-9038.
2. Taskinen, M-R. 1987. Lipoprotein lipase in hypertriglyceridemias. In Lipoprotein Lipase. J. Borensztajn, editor. Evener Publishers, Inc. Chicago, IL. 201-225.
3. Eckel, R. H. 1987. Adipose tissue lipoprotein lipase. In Lipoprotein Lipase. J. Borensztajn, editor. Evener Publishers, Inc., Chicago, IL. 79-132.
4. Jeppesen, J., C. B. Hollenbeck, M-Y. Zhou, A. M. Coulston, C. Jones, Y-D. I. Chen, and G. M. Reaven. 1995. Relation between insulin resistance, hyperinsulinemia, postheparin plasma lipoprotein lipase activity, and postprandial lipemia. Arterioscler. Thromb. Vasc. Biol. 15: 320-324.
5. Santamarina-Fojo, S., and H. B. Brewer, Jr. 1991. The familial hyperchylomicronemia syndrome - new insights into underlying genetic defects. J. Am. Med. Assoc. 265: 904-908.
6. Hayden, M. R., and Y. Ma. 1992. Molecular genetics of human lipoprotein lipase deficiency. Mol. Cell. Biochem. 113: 171-176.
7. Mailly, F., J. Palmen, P. J. Talmud, D. P. R. Muller, T. Gibbs, J. Lloyd, J. D. Brunzell, P. Durrington, K. A. Mitropoulos, D. J. Betteridge, G. Watts, H. Lithell, F. Angelico, and S. E. Humphries. 1997. Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in twenty patients from the UK, Sweden and Italy. Hum. Mutat. 10: 465-473.
8. Wilson, D. E., M. Emi, P-H. Iverius, A. Hata, L. L. Wu, E. Hillas, R. R. Williams, and J. M. Lalouel. 1990. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J. Clin. Invest. 86: 735-750.
9. Babirak, S. P., B. G. Brown, and J. D. Brunzell. 1992. Familial combined hyperlipidemia and abnormal lipoprotein lipase. Arterioscler. Thromb. 12: 1176-1183.
10. Seed, M., F. Mailly, D. Vallance, E. Doherty, A. Winder, P. Talmud, and S. E. Humphries. 1994. Lipoprotein lipase activity in patients with combined hyperlipidemia. Clin. Invest. 72: 100-106.
11. Mailly, F., Y. Tugrul, P. W. A. Reymer, T. Bruin, M. Seed, B. F. Groenemeyer, A. Asplund-Carlson, D. Vallance, A. F. Winder, G. J. Miller, J. J. P. Kastelein, A. Hamsten, G. Olivecrona, S. E. Humphries, and P. Talmud. 1995. A common variant in the gene for lipoprotein lipase (Asp9→Asn): functional implications and prevalence in normal and hyperlipidemic subjects. Arterioscler. Thromb. Vasc. Biol. 15: 468-478.
12. Reymer, P. W. A., E. Gagné, B. E. Groenemeyer, H. Zhang, I. Forsyth, H. Jansen, J. C. Seidell, D. Kromhout, J. Kastelein, and M. R. Hayden. 1995. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nature Genet. 10: 28-34.
13. Fisher, R. M., F. Mailly, R. E. Peacock, A. Hamsten, M. Seed, J. S. Yudkin, U. Beisiegel, G. Feussner, G. Miller, S. E. Humphries, and P. J. Talmud. 1995. Interaction of the lipoprotein lipase asparagine 291→serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidaemic subjects, myocardial infarction survivors and healthy adults. J. Lipid Res. 36: 2104-2112.
14. Gerdes, C., R. M. Fisher, V. Nicaud, J. Boer, S. E. Humphries, P. J. Talmud, O. Faergerman, and on behalf of the EARS Group. 1997. Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations. Studies in the fasting and postprandial states: the European Atherosclerosis Research studies. Circulation. 96: 733-740.
15. Mailly, F., R. M. Fisher, V. Nicaud, L-A. Luong, A. E. Evans, P. Marques-Vidal, G. Luc, D. Arveiler, J. M. Bard, O. Poirier, P. J. Talmud, and S. E. Humphries. 1996. Association between the LPL-D9N mutation in the lipoprotein lipase gene and plasma lipid traits in myocardial infarction survivors from the ECTIM study. Atherosclerosis. 122: 21-25.
16. Reymer, P. W. A., B. E. Groenemeyer, E. Gagné, L. Miao, E. E. G. Appelman, J. C. Seidel, D. Kromhout, S. M. Bijvoet, K. van de Oever, T. Bruin, M. R. Hayden, and J. J. P. Kastelein. 1995. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum. Mol. Genet. 4: 1543-1549.
17. Wittrup, H. W., A. Tybjaerg-Hansen, S. Abildgaard, R. Steffensen, P. Schnohr, and B. G. Nordestgaard. 1997. A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease. J. Clin. Invest. 99: 1606-1613.
18. Jemaa, R., F. Fumeron, O. Poirier, L. Lecerf, A. Evans, D. Arveiler, G. Luc, J-P. Cambou, J-M. Bard, J-C. Fruchart, M. Apfelbaum, F. Cambien, and L. Tiret. 1995. Lipoprotein lipase gene polymorphisms: associations with myocardial infarction and lipoprotein levels, the ECTIM study. J. Lipid Res. 36: 2141-2146.
19. Mattu, R. K., E. W. A. Needham, R. Morgan, A. Rees, A. Hackshaw, J. Stocks, P. C. Elwood, and D. J. Galton. 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.
20. Hall, S., G. Chu, G. Miller, K. Cruickshank, J. A. Cooper, S. E. Humphries, and P. J. Talmud. 1997. A common mutation in the lipoprotein lipase gene promoter, -93T/G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro. Arterioscler. Thromb. Vasc. Biol. 17: 1969-1976.
21. Yang, W-S., D. N. Nevin, R. Peng, J. D. Brunzell, and S. S. Deeb. 1995. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc. Natl. Acad. Sci. USA. 92: 4462-4466.
22. Miesenbock, G., B. Holzl, B. Foger, E. Brandstatter, B. Paulweber, F. Sandhofer, and J. R. Patsch. 1993. Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J. Clin. Invest. 91: 448-455.
23. Pimstone, S. N., E. Gagné, S. M. Clee, E. A. Stein, and M. R. Hayden. 1995. Post-prandial retinyl palmitate response supports evidence for a functional effect of the Asn291Ser mutation in the lipoprotein lipase gene. Circulation. 92, Suppl: I-493.
24. Ginsberg, H. N., J. Jones, W. S. Blaner, A. Thomas, W. Karmally, L. Fields, D. Blood, and M. D. Begg. 1995. Association of postprandial triglyceride and retinyl palmitate responses with newly diagnosed exercise-induced myocardial ischemia in middle-aged men and women. Arterioscler. Thromb. Vasc. Biol. 15: 1829-1838.
25. Bieri, J. G., T. J. Tolliver, and G. L. Catignani. 1979. Simultaneous determination of α-tocopherol and retinol in plasma or red cells by high pressure liquid chromatography. Am. J. Clin. Nutr. 32: 2143-2149.
26. Miller, S. A., D. D. Dykes, and H. F. Polesky. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215.
27. Hixson, J. E. and D. T. Vernier. 1990. Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J. Lipid Res. 31: 545-548.
28. Day, I.N., S.E. Humphries, S. Richards, D. Norton, and M. Reid. 1995. High-throughput genotyping using horizontal polyacrylamide gels with wells arranged for microplate array diagonal gel electrophoresis (MADGE). Biotechniques. 19: 830-835.
29. Chakravarti, A., K. H. Buetow, S. E. Antonarakis, P. G. Waber, C. D. Boehm, and H. H. Kazazian. 1984. Nonuniform recombination within the human beta-globin gene cluster. Am. J. Hum. Genet. 36: 1239-1258.
30. Templeton, A. R., C. F. Sing, A. Kessling, and S. Humphries. 1988. A cladistic analysis of phenotype associations with haplotypes inferred from restriction endonuclease mapping. II. The analysis of natural populations. Genetics. 120: 1145-1154.
31. Zhang, H., H. Henderson, S. E. Gagne, S. M. Clee, L. Miao, G. Liu, and M. R. Hayden. 1996. Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function. Biochim. Biophys. Acta. 1302: 159-166.
32. Elbein, S. C., C. Yeager, L. K. Kwong, A. Lingam, I. Inoue, J-M. Lalouel, and D. E. Wilson. 1994. Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial non-insulin-dependent diabetes mellitus families. J. Clin. Endocrinol. Metab. 79: 1450-1456.
33. Zhang, H., P. W. A. Reymer, M-S. Liu, I. J. Forsythe, B. E. Groenemeyer, J. Frolich, J. D. Brunzell, J. J. P. Kastelein, M. R. Hayden, and Y. Ma. 1995. Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291→Ser mutation in the human LPL gene. Arterioscler. Thromb. Vasc. Biol. 15: 1695-1703.
34. Yang, W-S., D. N. Nevin, L. Iwasaki, R. Peng, B. G. Brown, J. D. Brunzell, and S. S. Deeb. 1996. Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary heart disease. J. Lipid Res. 37: 2627-2637.
35. Coppack, S. W., R. D. Evans, R. M. Fisher, K. N. Frayn, G. F. Gibbons, S. M. Humphreys, M. L. Kirk, J. L. Potts, and T. D. R. Hockaday. 1992. Adipose tissue metabolism in obesity: lipase action in vivo before and after a mixed meal. Metabolism. 41: 264-272.
36. Karpe, F., M. Bell, J. Björkegren, and A. Hamsten. 1995. Quantification of postprandial triglyceride-rich lipoproteins in healthy men by retinyl ester labeling and simultaneous measurement of apoliproproteins B-48 and B-100. Arterioscler. Thromb. Vasc. Biol. 15: 199-207.
37. Monsalve, M. V., H. Henderson, G. Roederer, P. Julien, S. Deeb, J. J. P. Kastelein, L. Peritz, R. Devlin, T. Bruin, M. R. V. Murthy, C. Gagne, J. Davignon, P. J. Lupien, J. D. Brunzell, and M. R. Hayden. 1990. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries. J. Clin. Invest. 86: 728-734.