Lipoprotein Lipase Genetic Variants rs258 and rs326 Differentially Affect Lipid Profiles and Leptin Levels in Prepubertal Spanish Caucasian Children

<b>Background/Objectives:</b> Variants in the lipoprotein lipase (<i>LPL</i>) gene have been associated with lipid level variability and obesity; however, their role in energy homeostasis remains unclear. The aim of this study was to investigate the association of <i>LPL</i> single-nucleotide variants (SNVs) with lipid parameters and leptin concentrations in a cohort of prepubertal children. The sample population comprised 635 boys and 631 girls, with available information on lipid profiles and leptin levels. <b>Methods:</b> Five <i>LPL</i> SNVs (rs258, rs316, rs326, rs320, and rs328) were genotyped by Real-Time PCR using predesigned TaqMan™ Genotyping Assays. <b>Results:</b> An association of the <i>LPL</i> SNV rs258 was found with non-esterified fatty acid (NEFA) levels in males and with leptin concentrations in both sexes. On the other hand, an association of the <i>LPL</i> SNV rs326 was observed with low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (Apo-B) levels, displaying opposite trends in males and females. No significant associations with any of the parameters under study were observed for the remaining <i>LPL</i> SNVs. <b>Conclusions:</b> These results suggest that functional differences among <i>LPL</i> SNVs may either be related to an enhancement of catalytic activity or modulation of lipoprotein binding affinity, influencing the efficiency of remnant lipoprotein clearance.