Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients

Auteur(s): Guénard, Frédéric; Houde, Alain; Bouchard, Luigi; Tchernof, André; Deshaies, Yves; Biron, SimonLescelleur, OdetteBiertho, Laurent; Marceau, Simon; Pérusse, LouisVohl, Marie-Claude
Résumé: The lipase A, lysosomal acid, cholesterol esterase enzyme (LIPA) is involved in the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) delivered to lysosomes. LIPA deficiency in human causes two distinct phenotypes characterized by intracellular storage of CE and derangements in the control of cholesterol production, namely the Wolman disease (WD) and the CE storage disease (CESD). To test the potential association of LIPA gene polymorphisms with obesity-related metabolic complications, promoter, exons, and intronic flanking regions of the LIPA gene were first sequenced in 25 individuals. From the 14 common polymorphisms identified, 12 tagging single-nucleotide polymorphisms (tSNPs) were genotyped in a cohort of 1,751 obese individuals. After adjustments for the effect of age, sex, diabetes, and medication, the C allele of SNP rs1051338 was associated with lower blood pressure (BP; systolic (SBP) P = 0.004; diastolic (DBP) P = 0.006). Three of the tested SNPs were associated with modifications of the plasma lipid profile. The G/G genotype of rs2071509 was associated with higher high-density lipoprotein cholesterol (HDL-C) levels (P = 0.009) and minor allele of rs1131706 was also associated with higher HDL-C (P = 0.004) and an association between rs3802656 and total cholesterol (total-C)/HDL-C ratio was identified (P = 0.04). These results thus suggest that LIPA polymorphisms contribute to the interindividual variability observed in obesityrelated metabolic complications.
Type de document: Article de recherche
Date de publication: 17 octobre 2012
Date de la mise en libre accès: Accès restreint
Version du document: VoR
Lien permanent: http://hdl.handle.net/20.500.11794/39936
Ce document a été publié dans: Obesity, Vol. 20 (10), 2075-2082 (2012)
https://doi.org/10.1038/oby.2012.52
NAASO the Obesity Society
Autre version disponible: 10.1038/oby.2012.52
22395809
Collection :Articles publiés dans des revues avec comité de lecture

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