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

DC FieldValueLanguage
dc.contributor.authorGuénard, Frédéric-
dc.contributor.authorHoude, Alain-
dc.contributor.authorBouchard, Luigi-
dc.contributor.authorTchernof, André-
dc.contributor.authorDeshaies, Yves-
dc.contributor.authorBiron, Simon-
dc.contributor.authorLescelleur, Odette-
dc.contributor.authorBiertho, Laurent-
dc.contributor.authorMarceau, Simon-
dc.contributor.authorPérusse, Louis-
dc.contributor.authorVohl, Marie-Claude-
dc.date.accessioned2020-07-31T16:32:28Z-
dc.date.available9999-12-31-
dc.date.issued2012-10-17-
dc.identifier.issn1930-7381fr
dc.identifier.urihttp://hdl.handle.net/20.500.11794/39936-
dc.description.abstractThe 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.fr
dc.languageengfr
dc.publisherNAASO the Obesity Societyfr
dc.titleAssociation of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patientsfr
dc.typeCOAR1_1::Texte::Périodique::Revue::Contribution à un journal::Article::Article de recherchefr
dcterms.bibliographicCitationObesity, Vol. 20 (10), 2075-2082 (2012)fr
dc.identifier.doi10.1038/oby.2012.52fr
dc.identifier.pubmed22395809fr
dc.subject.rvmMaladies lysosomiales congénitalesfr
dc.subject.rvmSyndrome métaboliquefr
dc.subject.rvmObésitéfr
dc.subject.rvmPolymorphisme de nucléotide simplefr
rioxxterms.versionVersion of Recordfr
rioxxterms.version_of_recordhttps://doi.org/10.1038/oby.2012.52fr
rioxxterms.projectMOP-209380fr
rioxxterms.project.funder_nameCanadian Institutes of Health Researchfr
bul.rights.periodeEmbargoInfinifr
Collection:Articles publiés dans des revues avec comité de lecture

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