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...
- 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/
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|
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 https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/2/license_rdf https://bibliotecadigital.udea.edu.co/bitstream/10495/26743/3/license.txt |
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bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
repository.name.fl_str_mv |
Repositorio Institucional Universidad de Antioquia |
repository.mail.fl_str_mv |
andres.perez@udea.edu.co |
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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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 |