Replication of genetic association studies in aortic stenosis in adults

DC FieldValueLanguage
dc.contributor.authorGaudreault, Nathalie-
dc.contributor.authorDucharme, Valérie-
dc.contributor.authorLamontagne, Maxime-
dc.contributor.authorGuauque-Olarte, Sandra-
dc.contributor.authorMathieu, Patrick-
dc.contributor.authorPibarot, Philippe-
dc.contributor.authorBossé, Yohan-
dc.date.accessioned2016-07-04T17:30:08Z-
dc.date.available10000-01-01-
dc.date.issued2011-11-01-
dc.identifier.issn0002-9149fr_CA
dc.identifier.urihttp://hdl.handle.net/20.500.11794/7819-
dc.description.abstractOnly a handful of studies have attempted to unravel the genetic architecture of calcific aortic valve stenosis (AS). The goal of this study was to validate genes previously associated with AS. Seven genes were assessed: APOB, APOE, CTGF, IL10, PTH, TGFB1, and VDR. Each gene was tested for a comprehensive set of single-nucleotide polymorphisms (SNPs). SNPs were genotyped in 457 patients who underwent surgical aortic valve replacement, and allele frequencies were compared to 3,294 controls. A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001). A second SNP located 5.6 kilobases downstream of the APOB stop codon was also associated with the disease (rs6725189, p = 0.000013). Six SNPs surrounding the IL10 locus were strongly associated with AS (0.02 > p > 6.2 × 10¯¹¹). The most compelling association for IL10 was found with a promoter polymorphism (rs1800872) well known to regulate the production of the encoded anti-inflammatory cytokine. The frequency of the low-producing allele was greater in cases compared to controls (30% vs 20%, p = 6.2 × 10¯¹¹). SNPs in PTH, TGFB1, and VDR had nominal p values <0.05 but did not resist Bonferroni correction. In conclusion, this study suggests that subjects carrying specific polymorphisms in the IL10 and APOB genes are at higher risk for developing AS.fr_CA
dc.languageengfr_CA
dc.publisherElsevierfr_CA
dc.titleReplication of genetic association studies in aortic stenosis in adultsfr_CA
dc.typeCOAR1_1::Texte::Périodique::Revue::Contribution à un journal::Article::Article de recherche-
dcterms.bibliographicCitationThe American journal of cardiology, Vol. 108 (9), 1305–1310 (2011)fr_CA
dc.audienceCardiologuesfr_CA
dc.audienceMédecinsfr_CA
dc.audienceProfesseurs (Enseignement supérieur)fr_CA
dc.audienceÉtudiantsfr_CA
dc.audienceDoctorantsfr_CA
dc.identifier.doi10.1016/j.amjcard.2011.06.050fr_CA
dc.identifier.pubmed21855833fr_CA
dc.subject.rvmAorte -- Rétrécissement -- Aspect génétiquefr_CA
rioxxterms.versionVersion of Recordfr_CA
rioxxterms.version_of_recordhttps://doi.org/10.1016/j.amjcard.2011.06.050fr_CA
rioxxterms.projectMOP 102481, MOP 79342fr_CA
rioxxterms.project.funder_nameirscfr_CA
bul.rights.periodeEmbargoInfinifr_CA
Collection:Articles publiés dans des revues avec comité de lecture

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