Publicação
Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis
| Resumo: | 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. |
|---|---|
| Autores principais: | Moura, Luis M. |
| Outros Autores: | Faria, Susana; Brito, Miguel; Pinto, Fausto J.; Kristensen, Steen D.; Barros, Isabel M.; Rajamannan, Nalini; Gonçalves, Francisco Rocha |
| Assunto: | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| Ano: | 2012 |
| País: | Portugal |
| Tipo de documento: | artigo |
| Tipo de acesso: | acesso restrito |
| Instituição associada: | Universidade do Minho |
| Idioma: | inglês |
| Origem: | RepositóriUM - Universidade do Minho |
| _version_ | 1867439685533433856 |
|---|---|
| author | Moura, Luis M. |
| author2 | Faria, Susana Brito, Miguel Pinto, Fausto J. Kristensen, Steen D. Barros, Isabel M. Rajamannan, Nalini Gonçalves, Francisco Rocha |
| author2_role | author author author author author author author |
| author_facet | Moura, Luis M. Faria, Susana Brito, Miguel Pinto, Fausto J. Kristensen, Steen D. Barros, Isabel M. Rajamannan, Nalini Gonçalves, Francisco Rocha |
| author_role | author |
| contributor_name_str_mv | RepositóriUM - Universidade do Minho |
| country_str | PT |
| creators_json_txt | [{\"Person.name\":\"Moura, Luis M.\"},{\"Person.name\":\"Faria, Susana\"},{\"Person.name\":\"Brito, Miguel\"},{\"Person.name\":\"Pinto, Fausto J.\"},{\"Person.name\":\"Kristensen, Steen D.\"},{\"Person.name\":\"Barros, Isabel M.\"},{\"Person.name\":\"Rajamannan, Nalini\"},{\"Person.name\":\"Gonçalves, Francisco Rocha\"}] |
| datacite.contributors.contributor.contributorName.fl_str_mv | RepositóriUM - Universidade do Minho |
| datacite.creators.creator.creatorName.fl_str_mv | Moura, Luis M. Faria, Susana Brito, Miguel Pinto, Fausto J. Kristensen, Steen D. Barros, Isabel M. Rajamannan, Nalini Gonçalves, Francisco Rocha |
| datacite.date.Accepted.fl_str_mv | 2012-06-01T00:00:00Z |
| datacite.date.available.fl_str_mv | 2013-05-27T15:56:29Z |
| datacite.date.embargoed.fl_str_mv | 2013-05-27T15:56:29Z |
| datacite.rights.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| datacite.subjects.subject.fl_str_mv | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| datacite.titles.title.fl_str_mv | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| dc.contributor.none.fl_str_mv | RepositóriUM - Universidade do Minho |
| dc.creator.none.fl_str_mv | Moura, Luis M. Faria, Susana Brito, Miguel Pinto, Fausto J. Kristensen, Steen D. Barros, Isabel M. Rajamannan, Nalini Gonçalves, Francisco Rocha |
| dc.date.Accepted.fl_str_mv | 2012-06-01T00:00:00Z |
| dc.date.available.fl_str_mv | 2013-05-27T15:56:29Z |
| dc.date.embargoed.fl_str_mv | 2013-05-27T15:56:29Z |
| dc.format.none.fl_str_mv | application/pdf |
| dc.identifier.none.fl_str_mv | https://hdl.handle.net/1822/24221 |
| dc.language.none.fl_str_mv | eng |
| dc.publisher.none.fl_str_mv | e-Century Publishing Corporation |
| dc.rights.none.fl_str_mv | http://purl.org/coar/access_right/c_16ec |
| dc.subject.none.fl_str_mv | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| dc.title.fl_str_mv | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| dc.type.none.fl_str_mv | http://purl.org/coar/resource_type/c_6501 |
| description | 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. |
| dirty | 0 |
| eu_rights_str_mv | restrictedAccess |
| format | article |
| fulltext.url.fl_str_mv | https://repositorium.uminho.pt/bitstreams/0f39b2e0-0f53-4695-844d-14f66dc2666d/download |
| id | rum_fa35e6967d34ec7afab9ebfa95d9d7ec |
| identifier.url.fl_str_mv | https://hdl.handle.net/1822/24221 |
| instacron_str | repositorium |
| institution | Universidade do Minho |
| instname_str | Universidade do Minho |
| language | eng |
| network_acronym_str | rum |
| network_name_str | RepositóriUM - Universidade do Minho |
| oai_identifier_str | oai:repositorium.uminho.pt:1822/24221 |
| organization_str_mv | urn:organizationAcronym:repositorium |
| person_str_mv | Moura, Luis M. Faria, Susana Brito, Miguel Pinto, Fausto J. Kristensen, Steen D. Barros, Isabel M. Rajamannan, Nalini Gonçalves, Francisco Rocha |
| publishDate | 2012 |
| publisher.none.fl_str_mv | e-Century Publishing Corporation |
| reponame_str | RepositóriUM - Universidade do Minho |
| repository_id_str | urn:repositoryAcronym:rum |
| service_str_mv | urn:repositoryAcronym:rum |
| spelling | enge-Century Publishing CorporationporParaoxonases 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.application/pdfporRelationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosisMoura, Luis M.Faria, SusanaBrito, MiguelPinto, Fausto J.Kristensen, Steen D.Barros, Isabel M.Rajamannan, NaliniGonçalves, Francisco RochaHostingInstitutionOrganizationalRepositóriUM - Universidade do Minhoe-mailmailto:repositorium@usdb.uminho.ptrepositorium@usdb.uminho.ptISSNIsPartOf2160-200X2013-05-27T15:56:29Z2012-062012-032012-06-01T00:00:00ZHandlehttps://hdl.handle.net/1822/24221http://purl.org/coar/access_right/c_16ecrestricted accessCalcific aortic stenosisPolymorphismParaoxonaseAtherosclerosisGeneticsAssociation146709 bytesliteraturehttp://purl.org/coar/resource_type/c_6501journal articlehttp://purl.org/coar/access_right/c_16ecapplication/pdffulltexthttps://repositorium.uminho.pt/bitstreams/0f39b2e0-0f53-4695-844d-14f66dc2666d/download |
| spellingShingle | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis Moura, Luis M. Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| status | SINGLETON |
| subject.fl_str_mv | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| title | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| title_full | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| title_fullStr | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| title_full_unstemmed | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| title_short | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| title_sort | Relationship of PON1 192 and 55 gene polymorphisms to calcific valvular aortic stenosis |
| topic | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| topic_facet | Calcific aortic stenosis Polymorphism Paraoxonase Atherosclerosis Genetics Association |
| url | https://hdl.handle.net/1822/24221 |
| visible | 1 |