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

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.

Endothelial Lipase is Increased by Inflammation and Promotes LDL Uptake in Macrophages

“…The inactivation or inhibition of EL results in an increased HDL-cholesterol (HDL-C) level in mice, whereas EL over-expression results in a reduced HDL-C level [12][13][14] . In addition, an association between EL genetic variation and plasma HDL-C levels has been reported in humans 15,16) . In addition to its lipolytic function, EL has a non-enzymatic bridging function between circulating monocytes or lipoproteins and blood vessel walls 17,18) .…”

Endothelial lipase: Its role in cardiovascular disease

“…More precisely, carriers of the rare allele in the promoter region had elevated serum HDL-C concentrations compared with children with the wild-type allele. On the other hand, children with the rare allele of the 2237G/A variant had lower serum HDL-C concentrations compared with those that had the more frequent allele (28).…”

Dyslipidemia: Genetics and Role in the Metabolic Syndrome

“…Several polymorphisms in EL/LPIG have been associated with HDL-C levels (Table 1) (Hutter et al, 2006;Ma et al, 2003;Mank-Seymour et al, 2004;Paradis et al, 2003;Tang et al, 2008;YamakawaKobayashi et al, 2003). However, most of these SNPs have not been as well studied as those in CETP, LPL and EL; and, only the nonsynonymous SNP, rs2000813, has been consistently associated with HDL-C levels in African-American populations (Hutter et al, 2006;Tang et al, 2008;Yamakawa-Kobayashi et al, 2003).…”