Advertisement

Human Genetics

, Volume 113, Issue 4, pp 311–315 | Cite as

Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children

  • Kimiko Yamakawa-Kobayashi
  • Hisako Yanagi
  • Kazue Endo
  • Tadao Arinami
  • Hideo Hamaguchi
Original Investigation

Abstract

Endothelial lipase (EL) is a new member of the triglyceride lipase family, the genes of which play a central role in dietary fat absorption, energy homeostasis, and plasma lipoprotein metabolism. One physiologic role of EL is thought to be hydrolysis of high-density lipoprotein (HDL) phospholipid, although the precise function of endothelial lipase has yet to be fully clarified. Furthermore, genetic variation in EL has been suggested to influence serum HDL-C levels. In the present study, we detected two common single nucleotide polymorphisms in the EL gene associated with serum HDL cholesterol levels in healthy school-aged children. Our data support the hypothesis that variations in the EL gene are one of the genetic determinants of serum HDL-C levels.

Keywords

Serum Lipid Level Hepatic Lipase Endothelial Lipase Tight Linkage Disequilibrium Plasma Lipoprotein Metabolism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

We are grateful to the subjects for their participation in our study. This work was supported by a Grant-in-Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology, Japan.

References

  1. Bertrais S, Balkau B, Charles MA, Vol S, Calvet C, Tichet J, Eschwege E (2000) Puberty-associated differences in total cholesterol and triglyceride levels according to sex in French children aged 10–13 years. Ann Epidemiol 10:316-323CrossRefPubMedGoogle Scholar
  2. Castelli WP, Garrison RJ, Wilson PW, Abbott RD, Kalousdian S, Kannel WB (1986) Incidence of coronary heart disease and lipoprotein cholesterol levels. The Framingham Study. JAMA 256:2835–2838PubMedGoogle Scholar
  3. Choi SY, Hirata K, Ishida T, Quertermous T, Cooper AD (2002) Endothelial lipase: a new lipase on the block. J Lipid Res 43:1763-1769CrossRefPubMedGoogle Scholar
  4. Cohen JC (2003) Endothelial lipase: direct evidence for a role in HDL metabolism. J Clin Invest 111:318-321CrossRefPubMedGoogle Scholar
  5. deLemos AS, Wolfe ML, Long CJ, Sivapackianathan R, Rader DJ (2002) Identification of genetic variants in endothelial lipase in persons with elevated high-density lipoprotein cholesterol. Circulation 106:1321-1326CrossRefPubMedGoogle Scholar
  6. Fielding CJ, Fielding PE (1995) Molecular physiology of reverse cholesterol transport. J Lipid Res 36:211–228PubMedGoogle Scholar
  7. Friedewald WT, Levy RI, Fredrickson DS (1972) Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 18:499–502PubMedGoogle Scholar
  8. Glomset JA, Norum KR (1973) The metabolic role of lecithin: cholesterol acyltransferase: perspectives form pathology. Adv Lipid Res 11:1-65Google Scholar
  9. Goldberg IJ (1996) Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis. J Lipid Res 37:693–707PubMedGoogle Scholar
  10. Gordon DJ, Rifkind BM (1989) High-density lipoprotein—the clinical implications of recent studies. N Engl J Med 321:1311–1316Google Scholar
  11. Gordon T, Castelli WP, Hjortland MC, Kannel WB, Dawber TR (1977) High density lipoprotein as a protective factor against coronary heart disease. The Framingham Study. Am J Med 62:707–714PubMedGoogle Scholar
  12. Hasstedt SJ, Albers JJ, Cheung MC, Jorde LB, Wilson DE, Edwards CQ, Cannon WN, Ash KO, Williams RR (1984) The inheritance of high density lipoprotein cholesterol and apolipoproteins A-I and A-II. Atherosclerosis 51:21–29PubMedGoogle Scholar
  13. Heller DA, Faire U de, Pedersen NL, Dahlen G, McClearn GE (1993) Genetic and environmental influences on serum lipid levels in twins. N Engl J Med 328:1150–1156CrossRefPubMedGoogle Scholar
  14. Hirata K, Dichek HL, Cioffi JA, Choi SY, Leeper NJ, Quintana L, Kronmal GS, Cooper AD, Quertermous T (1999) Cloning of a unique lipase from endothelial cells extends the lipase gene family. J Biol Chem 274:14170-14175CrossRefPubMedGoogle Scholar
  15. Ikeda T, Shibuya Y, Senba U, Sugiuchi H, Araki S, Uji Y, Okabe H (1991) Automated immunoturbidimetric analysis of six plasma apolipoproteins: correlation with radial immunodiffusion assays. J Clin Lab Anal 5:90–95PubMedGoogle Scholar
  16. Ishida T, Choi S, Kundu RK, Hirata K, Rubin EM, Cooper AD, Quertermous T (2003) Endothelial lipase is a major determinant of HDL level. J Clin Invest 111:347-355CrossRefPubMedGoogle Scholar
  17. Jaye M, Lynch KJ, Krawiec J, Marchadier D, Maugeais C, Doan K, South V, Amin D, Perrone M, Rader DJ (1999) A novel endothelial-derived lipase that modulates HDL metabolism. Nat Genet 21:424-428PubMedGoogle Scholar
  18. Jin W, Marchadier D, Rader DJ (2002) Lipases and HDL metabolism. Trends Endocrinol Metab 13:174-178CrossRefPubMedGoogle Scholar
  19. Jin W, Millar JS, Broedl U, Glick JM, Rader DJ (2003) Inhibition of endothelial lipase causes increased HDL cholesterol levels in vivo. J Clin Invest 111:357-362CrossRefPubMedGoogle Scholar
  20. McCoy MG, Sun GS, Marchadier D, Maugeais C, Glick JM, Rader DJ (2002) Characterization of the lipolytic activity of endothelial lipase. J Lipid Res 43:921-929PubMedGoogle Scholar
  21. Rader DJ, Jaye M (2000) Endothelial lipase: a new member of the triglyceride lipase gene family. Curr Opin Lipidol 11:141–147CrossRefPubMedGoogle Scholar
  22. Razzaghi H, Aston CE, Hamman RF, Kamboh MI (2000) Genetic screening of the lipoprotein lipase gene for mutations associated with high triglyceride/low HDL-cholesterol levels. Hum Genet 107:257–267CrossRefPubMedGoogle Scholar
  23. Santamarina-Fojo S, Haudenschild C, Amar M (1998) The role of hepatic lipase in lipoprotein metabolism and atherosclerosis. Curr Opin Lipidol 9:211–219CrossRefPubMedGoogle Scholar
  24. Tall AR, Breslow JL, Rubin EM (2002) Genetic disorders affecting plasma high-density lipoproteins. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 8th edn, vol 2. McGraw Hill, New York, pp 2915–2936Google Scholar
  25. Tell GS, Mittelmark MB, Vellar OD (1985) Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: the Oslo Youth Study. Am J Epidemiol 122:750–761PubMedGoogle Scholar
  26. Wittrup HH, Tybjaerg-Hansen A, Nordestgaard BG (1999) Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis. Circulation 99:2901–2907PubMedGoogle Scholar
  27. Wong H, Schotz MC (2002) The lipase gene family. J Lipid Res 43:993-999CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • Kimiko Yamakawa-Kobayashi
    • 1
    • 3
  • Hisako Yanagi
    • 2
  • Kazue Endo
    • 2
  • Tadao Arinami
    • 1
  • Hideo Hamaguchi
    • 1
  1. 1.Department of Medical Genetics, Institute of Basic Medical SciencesUniversity of TsukubaTsukuba Japan
  2. 2.Institute of Community MedicineUniversity of TsukubaTsukuba Japan
  3. 3.School of Food and Nutritional SciencesUniversity of ShizuokaShizuoka Japan

Personalised recommendations