Skip to main content
Log in

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

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • 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 10:316-323

    Article  CAS  PubMed  Google Scholar 

  • 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 256:2835–2838

    CAS  PubMed  Google Scholar 

  • Choi SY, Hirata K, Ishida T, Quertermous T, Cooper AD (2002) Endothelial lipase: a new lipase on the block. J Lipid Res 43:1763-1769

    Article  CAS  PubMed  Google Scholar 

  • Cohen JC (2003) Endothelial lipase: direct evidence for a role in HDL metabolism. J Clin Invest 111:318-321

    Article  CAS  PubMed  Google Scholar 

  • 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 106:1321-1326

    Article  CAS  PubMed  Google Scholar 

  • Fielding CJ, Fielding PE (1995) Molecular physiology of reverse cholesterol transport. J Lipid Res 36:211–228

    CAS  PubMed  Google Scholar 

  • 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 18:499–502

    CAS  PubMed  Google Scholar 

  • Glomset JA, Norum KR (1973) The metabolic role of lecithin: cholesterol acyltransferase: perspectives form pathology. Adv Lipid Res 11:1-65

    CAS  Google Scholar 

  • Goldberg IJ (1996) Lipoprotein lipase and lipolysis: central roles in lipoprotein metabolism and atherogenesis. J Lipid Res 37:693–707

    CAS  PubMed  Google Scholar 

  • Gordon DJ, Rifkind BM (1989) High-density lipoprotein—the clinical implications of recent studies. N Engl J Med 321:1311–1316

    Google Scholar 

  • 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 62:707–714

    CAS  PubMed  Google Scholar 

  • 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 51:21–29

    CAS  PubMed  Google Scholar 

  • 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 328:1150–1156

    Article  CAS  PubMed  Google Scholar 

  • 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 274:14170-14175

    Article  CAS  PubMed  Google Scholar 

  • 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 5:90–95

    CAS  PubMed  Google Scholar 

  • 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 111:347-355

    Article  CAS  PubMed  Google Scholar 

  • 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 21:424-428

    CAS  PubMed  Google Scholar 

  • Jin W, Marchadier D, Rader DJ (2002) Lipases and HDL metabolism. Trends Endocrinol Metab 13:174-178

    Article  CAS  PubMed  Google Scholar 

  • 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 111:357-362

    Article  CAS  PubMed  Google Scholar 

  • McCoy MG, Sun GS, Marchadier D, Maugeais C, Glick JM, Rader DJ (2002) Characterization of the lipolytic activity of endothelial lipase. J Lipid Res 43:921-929

    CAS  PubMed  Google Scholar 

  • Rader DJ, Jaye M (2000) Endothelial lipase: a new member of the triglyceride lipase gene family. Curr Opin Lipidol 11:141–147

    Article  CAS  PubMed  Google Scholar 

  • 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 107:257–267

    Article  CAS  PubMed  Google Scholar 

  • Santamarina-Fojo S, Haudenschild C, Amar M (1998) The role of hepatic lipase in lipoprotein metabolism and atherosclerosis. Curr Opin Lipidol 9:211–219

    Article  CAS  PubMed  Google Scholar 

  • 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 2915–2936

  • Tell GS, Mittelmark MB, Vellar OD (1985) Cholesterol, high density lipoprotein cholesterol and triglycerides during puberty: the Oslo Youth Study. Am J Epidemiol 122:750–761

    CAS  PubMed  Google Scholar 

  • 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 99:2901–2907

    CAS  PubMed  Google Scholar 

  • Wong H, Schotz MC (2002) The lipase gene family. J Lipid Res 43:993-999

    Article  CAS  PubMed  Google Scholar 

Download references

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.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Kimiko Yamakawa-Kobayashi.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yamakawa-Kobayashi, K., Yanagi, H., Endo, K. et al. Relationship between serum HDL-C levels and common genetic variants of the endothelial lipase gene in Japanese school-aged children. Hum Genet 113, 311–315 (2003). https://doi.org/10.1007/s00439-003-0985-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-003-0985-6

Keywords

Navigation