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Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis

2012-05Journal article Open access
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dc.contributor.authorMoura, Luís M.
dc.contributor.authorFaria, Susana
dc.contributor.authorBrito, Miguel
dc.contributor.authorPinto, Fausto J.
dc.contributor.authorKristensen, Steen D.
dc.contributor.authorBarros, Isabel M.
dc.contributor.authorRajamannan, Nalini
dc.contributor.authorRocha-Gonçalves, Francisco
dc.date.accessioned2014-01-03T21:42:36Z
dc.date.available2014-01-03T21:42:36Z
dc.date.issued2012-05
dc.description.abstractIntroduction and Objectives - Paraoxonases may exert anti-atherogenic action by reducing lipid peroxidation. Previous studies examined associations between polymorphisms in the paraoxonase 1 (PON1) gene and development of coronary artery disease (CAD), with inconsistent results. Given the similarities in clinical and pathophysiological risk factors of CAD and calcific aortic valve stenosis (CAVS), we postulated a link between PON1 alleles and CAVS progression. Methods - We investigated the association between PON1 55 and 192 single nucleotide polymorphisms (SNPs), their enzyme activity, and CAVS progression assessed by aortic valve area and transvalvular peak velocity in 67 consecutive patients with moderate CAVS and 251 healthy controls. Results - PON1 paraoxonase activity was higher in CAVS patients (P<0.001). The PON1 genotype Q192R SNP (P=0.03) and variant allele (R192) (P=0.01) frequencies differed between CAVS patients and controls. Significant association existed between PON1 enzyme activity, phenotypic effects of PON1 192 genotype polymorphisms, and CAVS progression, but not between PON1 55 and high-density lipoprotein (P=0.44) or low-density lipoprotein cholesterol (P=0.12), between 192 genotype and high-density lipoprotein (P=0.24) or low-density lipoprotein cholesterol (P=0.52). Conclusion - The PON1 genotype Q192R SNP has an important effect on CAVS disease progression. This study helps outline a genotype-phenotype relationship for PON1 in this unique population.por
dc.identifier.citationMoura LM, Faria S, Brito M, Pinto FJ, Kristensen SD, Barros IM, et al. Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis. Am J Cardiovasc Dis. 2012;2(2):123-32.por
dc.identifier.issn2160-200X
dc.identifier.urihttp://hdl.handle.net/10400.21/3066
dc.language.isoengpor
dc.peerreviewedyespor
dc.relation.publisherversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3371627/por
dc.subjectCalcific aortic stenosispor
dc.subjectPolymorphismpor
dc.subjectParaoxonasepor
dc.subjectAtherosclerosispor
dc.subjectGeneticspor
dc.subjectAssociationpor
dc.titleRelationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosispor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage132por
oaire.citation.startPage123por
oaire.citation.titleAmerican Journal of Cardiovascular Diseasepor
oaire.citation.volume2por
person.familyNameBrito
person.givenNameMiguel
person.identifier.ciencia-id231F-F341-7E93
person.identifier.orcid0000-0001-6394-658X
person.identifier.ridA-7970-2016
person.identifier.scopus-author-id35224551000
rcaap.rightsopenAccesspor
rcaap.typearticlepor
relation.isAuthorOfPublication4252d8e0-800c-4d67-8b13-0b711d860669
relation.isAuthorOfPublication.latestForDiscovery4252d8e0-800c-4d67-8b13-0b711d860669

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