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

• Published in: Human genetics 2003-09, Vol.113 (4), p.311-315
• Main Authors: YAMAKAWA-KOBAYASHI, Kimiko, YANAGI, Hisako, ENDO, Kazue, ARINAMI, Tadao, HAMAGUCHI, Hideo
• Format: Article
• Language: English
• Subjects: Adolescent; Apolipoproteins; Biological and medical sciences; Blood cholesterol; Body mass index; Cardiovascular disease; Child; Cholesterol; Cholesterol, HDL - blood; Cholesterol, HDL - genetics; Classical genetics, quantitative genetics, hybrids; Dietary fat; Endothelium; Families & family life; Female; Fundamental and applied biological sciences. Psychology; Genes; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; High density lipoprotein; Homeostasis; Human; Humans; Japan; Linkage Disequilibrium; Lipase; Lipase - genetics; Lipase - metabolism; Lipids; Lipoproteins; Male; Metabolism; Polymorphism, Genetic; Single nucleotide polymorphisms; Triglycerides
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-003-0985-6

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.