Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population

ABSTRACT: The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such a...

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Autores:
Torres Hernández, José Domingo
Cardona Cadavid, Henry
Álvarez Pelaéz, María Leonor
Cardona Maya, Walter Darío
Castañeda Ospina, Serguei Abel
Quintero Rivera, Fabiola
Cadavid Jaramillo, Ángela Patricia
Bedoya Berrío, Gabriel de Jesús
Tobón Acosta, Luis Ignacio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2006
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/26743
Acceso en línea:
http://hdl.handle.net/10495/26743
Palabra clave:
Activated Protein C Resistance
Resistencia a la Proteína C Activada
Methylenetetrahydrofolate Reductase (NADPH2)
Metilenotetrahidrofolato Reductasa (NADPH2)
Análisis Mutacional de ADN - Métodos
DNA Mutational Analysis - methods
Factor V - genética
Factor V - genetics
Protrombina - genética
Prothrombin - genetics
Frecuencia de los Genes
Gene Frequency
Rights
openAccess
License
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
id UDEA2_407f739e08af8c410cd3cad716c15b1e
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/26743
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
title Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
spellingShingle Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
Activated Protein C Resistance
Resistencia a la Proteína C Activada
Methylenetetrahydrofolate Reductase (NADPH2)
Metilenotetrahidrofolato Reductasa (NADPH2)
Análisis Mutacional de ADN - Métodos
DNA Mutational Analysis - methods
Factor V - genética
Factor V - genetics
Protrombina - genética
Prothrombin - genetics
Frecuencia de los Genes
Gene Frequency
title_short Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
title_full Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
title_fullStr Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
title_full_unstemmed Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
title_sort Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian Population
dc.creator.fl_str_mv Torres Hernández, José Domingo
Cardona Cadavid, Henry
Álvarez Pelaéz, María Leonor
Cardona Maya, Walter Darío
Castañeda Ospina, Serguei Abel
Quintero Rivera, Fabiola
Cadavid Jaramillo, Ángela Patricia
Bedoya Berrío, Gabriel de Jesús
Tobón Acosta, Luis Ignacio
dc.contributor.author.none.fl_str_mv Torres Hernández, José Domingo
Cardona Cadavid, Henry
Álvarez Pelaéz, María Leonor
Cardona Maya, Walter Darío
Castañeda Ospina, Serguei Abel
Quintero Rivera, Fabiola
Cadavid Jaramillo, Ángela Patricia
Bedoya Berrío, Gabriel de Jesús
Tobón Acosta, Luis Ignacio
dc.subject.decs.none.fl_str_mv Activated Protein C Resistance
Resistencia a la Proteína C Activada
Methylenetetrahydrofolate Reductase (NADPH2)
Metilenotetrahidrofolato Reductasa (NADPH2)
Análisis Mutacional de ADN - Métodos
DNA Mutational Analysis - methods
Factor V - genética
Factor V - genetics
Protrombina - genética
Prothrombin - genetics
Frecuencia de los Genes
Gene Frequency
topic Activated Protein C Resistance
Resistencia a la Proteína C Activada
Methylenetetrahydrofolate Reductase (NADPH2)
Metilenotetrahidrofolato Reductasa (NADPH2)
Análisis Mutacional de ADN - Métodos
DNA Mutational Analysis - methods
Factor V - genética
Factor V - genetics
Protrombina - genética
Prothrombin - genetics
Frecuencia de los Genes
Gene Frequency
description ABSTRACT: The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we con-ducted a case–control study involving 100 consecutive patients with deep vein thrombosisand 114 healthy controls from the Hospital Universitario San Vicente de Paúl, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR56.08, 95% CI52.23–17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR512.56, 95% CI51.61–267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombinG20210A mutation was found in 4/100 patients, but none of the controls (P< 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia.
publishDate 2006
dc.date.issued.none.fl_str_mv 2006
dc.date.accessioned.none.fl_str_mv 2022-03-19T18:19:12Z
dc.date.available.none.fl_str_mv 2022-03-19T18:19:12Z
dc.type.spa.fl_str_mv info:eu-repo/semantics/article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.hasversion.spa.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.redcol.spa.fl_str_mv https://purl.org/redcol/resource_type/ART
dc.type.local.spa.fl_str_mv Artículo de investigación
format http://purl.org/coar/resource_type/c_2df8fbb1
status_str publishedVersion
dc.identifier.citation.spa.fl_str_mv Torres, J., Cardona, H., Álvarez, L., Cardona, W., Castañeda, S., Quintero, F., Cadavid, A., Bedoya, G. & Tobón, L. (2006), Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. Am. J. Hematol., 81(12): 933-937. https://doi.org/10.1002/ajh.20733
dc.identifier.issn.none.fl_str_mv 0361-8609
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/26743
dc.identifier.doi.none.fl_str_mv 10.1002/ajh.20733
dc.identifier.eissn.none.fl_str_mv 1096-8652
identifier_str_mv Torres, J., Cardona, H., Álvarez, L., Cardona, W., Castañeda, S., Quintero, F., Cadavid, A., Bedoya, G. & Tobón, L. (2006), Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. Am. J. Hematol., 81(12): 933-937. https://doi.org/10.1002/ajh.20733
0361-8609
10.1002/ajh.20733
1096-8652
url http://hdl.handle.net/10495/26743
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.ispartofjournalabbrev.spa.fl_str_mv Am. J. Hematol.
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rights.accessrights.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.creativecommons.spa.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.format.extent.spa.fl_str_mv 5
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Wiley-Blackwell
dc.publisher.group.spa.fl_str_mv Genética Molecular (GENMOL)
Grupo Reproducción
Grupo de Investigación en Ciencias Agrarias -GRICA-
Grupo de Investigación en Trombosis
dc.publisher.place.spa.fl_str_mv Nueva York, Estados Unidos
institution Universidad de Antioquia
bitstream.url.fl_str_mv https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/1/TorresJos%c3%a9_2006_ThrombophiliaDeepVein.pdf
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repository.name.fl_str_mv Repositorio Institucional Universidad de Antioquia
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spelling Torres Hernández, José DomingoCardona Cadavid, HenryÁlvarez Pelaéz, María LeonorCardona Maya, Walter DaríoCastañeda Ospina, Serguei AbelQuintero Rivera, FabiolaCadavid Jaramillo, Ángela PatriciaBedoya Berrío, Gabriel de JesúsTobón Acosta, Luis Ignacio2022-03-19T18:19:12Z2022-03-19T18:19:12Z2006Torres, J., Cardona, H., Álvarez, L., Cardona, W., Castañeda, S., Quintero, F., Cadavid, A., Bedoya, G. & Tobón, L. (2006), Inherited thrombophilia is associated with deep vein thrombosis in a Colombian population. Am. J. Hematol., 81(12): 933-937. https://doi.org/10.1002/ajh.207330361-8609http://hdl.handle.net/10495/2674310.1002/ajh.207331096-8652ABSTRACT: The development of venous thromboembolism is influenced by a variety of genetic and environmental risk factors. A few studies have ascertained whether thrombophilic defects are risk factors for venous thromboembolism in Latin American populations with a variable degree of admixture, such as the Colombian population. To address this issue, we con-ducted a case–control study involving 100 consecutive patients with deep vein thrombosisand 114 healthy controls from the Hospital Universitario San Vicente de Paúl, Medellín, Colombia. Activated protein C resistance (APC resistance) was detected in 25/99 patients vs. 6/114 controls (OR56.08, 95% CI52.23–17.47). Ten of 100 patients carried the factor V Leiden mutation vs. 1/114 controls (OR512.56, 95% CI51.61–267). APC resistance was associated with the factor V Leiden mutation in only 10/25 patients. The prothrombinG20210A mutation was found in 4/100 patients, but none of the controls (P< 0.05). There was no significant difference in the proportion of homozygous carriers of methylenetetrahydrofolate reductase C677T variant among patients and controls. In conclusion, in our studied population, factor V Leiden, APC resistance, and prothrombin G20210A were associated with an increased risk of deep vein thrombosis. However, the frequencies of these thrombophilic defects and of APC resistance associated with factor V Leiden was lower than the corresponding frequencies previously reported for Caucasian populations. Further study is required to assess the influence of ethnicity on thrombophilia.COL0006723COL0007631COL0009556COL00104215application/pdfengWiley-BlackwellGenética Molecular (GENMOL)Grupo ReproducciónGrupo de Investigación en Ciencias Agrarias -GRICA-Grupo de Investigación en TrombosisNueva York, Estados Unidosinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/Inherited Thrombophilia is Associated With Deep VeinThrombosis in a Colombian PopulationActivated Protein C ResistanceResistencia a la Proteína C ActivadaMethylenetetrahydrofolate Reductase (NADPH2)Metilenotetrahidrofolato Reductasa (NADPH2)Análisis Mutacional de ADN - MétodosDNA Mutational Analysis - methodsFactor V - genéticaFactor V - geneticsProtrombina - genéticaProthrombin - geneticsFrecuencia de los GenesGene FrequencyAm. J. Hematol.American Journal of Hematology9339378112ORIGINALTorresJosé_2006_ThrombophiliaDeepVein.pdfTorresJosé_2006_ThrombophiliaDeepVein.pdfArtículo de investigaciónapplication/pdf87453https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/1/TorresJos%c3%a9_2006_ThrombophiliaDeepVein.pdf0e09d98d99773aa4c629c5ff9fd5c63aMD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8823https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/2/license_rdfb88b088d9957e670ce3b3fbe2eedbc13MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/26743oai:bibliotecadigital.udea.edu.co:10495/267432022-10-29 10:02:16.333Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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