Cargando…

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FI...

Descripción completa

Detalles Bibliográficos
Autores principales: Cernera, Gustavo, Di Minno, Alessandro, Amato, Felice, Elce, Ausilia, Liguori, Renato, Bruzzese, Dario, Di Lullo, Antonella Miriam, Castaldo, Giuseppe, Zarrilli, Federica, Comegna, Marika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231221/
https://www.ncbi.nlm.nih.gov/pubmed/32252449
http://dx.doi.org/10.3390/jcm9041008
_version_ 1783535141236244480
author Cernera, Gustavo
Di Minno, Alessandro
Amato, Felice
Elce, Ausilia
Liguori, Renato
Bruzzese, Dario
Di Lullo, Antonella Miriam
Castaldo, Giuseppe
Zarrilli, Federica
Comegna, Marika
author_facet Cernera, Gustavo
Di Minno, Alessandro
Amato, Felice
Elce, Ausilia
Liguori, Renato
Bruzzese, Dario
Di Lullo, Antonella Miriam
Castaldo, Giuseppe
Zarrilli, Federica
Comegna, Marika
author_sort Cernera, Gustavo
collection PubMed
description Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FII G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455 G>A, FXIII V34L, and HPA-1 L33P variants and PAI-1 4G/5G alleles in 343 male and female patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT) and 119 with retinal vein thrombosis (RVT), and compared them with the corresponding variants and alleles in 430 subjects from the general population. Results: About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE. In patients with a history of PVT or CVT, the FII G20210A variant was more frequent, particularly in females. In contrast, a poor association was found between RVT and prothrombotic risk factors, confirming that local vascular factors have a key role in this thrombotic event. Conclusions: Only FVL, FVR2 and FII G20210A are related to vein thrombotic disease. Other gene variants, often requested for testing in the clinical context, do not differ significantly between cases and controls. Evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases.
format Online
Article
Text
id pubmed-7231221
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-72312212020-05-22 Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization Cernera, Gustavo Di Minno, Alessandro Amato, Felice Elce, Ausilia Liguori, Renato Bruzzese, Dario Di Lullo, Antonella Miriam Castaldo, Giuseppe Zarrilli, Federica Comegna, Marika J Clin Med Article Background: Requests to test for thrombophilia in the clinical context are often not evidence-based. Aim: To define the role of a series of prothrombotic gene variants in a large population of patients with different venous thromboembolic diseases. Methods: We studied Factor V Leiden (FVL), FVR2, FII G20210A, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, beta-fibrinogen -455 G>A, FXIII V34L, and HPA-1 L33P variants and PAI-1 4G/5G alleles in 343 male and female patients with deep vein thrombosis (DVT), 164 with pulmonary embolism (PE), 126 with superficial vein thrombosis (SVT), 118 with portal vein thrombosis (PVT), 75 with cerebral vein thrombosis (CVT) and 119 with retinal vein thrombosis (RVT), and compared them with the corresponding variants and alleles in 430 subjects from the general population. Results: About 40% of patients with DVT, PE and SVT had at least one prothrombotic gene variant, such as FVL, FVR2 and FII G20210A, and a statistically significant association with the event was found in males with a history of PE. In patients with a history of PVT or CVT, the FII G20210A variant was more frequent, particularly in females. In contrast, a poor association was found between RVT and prothrombotic risk factors, confirming that local vascular factors have a key role in this thrombotic event. Conclusions: Only FVL, FVR2 and FII G20210A are related to vein thrombotic disease. Other gene variants, often requested for testing in the clinical context, do not differ significantly between cases and controls. Evidence of a sex difference for some variants, once confirmed in larger populations, may help to promote sex-specific prevention of such diseases. MDPI 2020-04-02 /pmc/articles/PMC7231221/ /pubmed/32252449 http://dx.doi.org/10.3390/jcm9041008 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Cernera, Gustavo
Di Minno, Alessandro
Amato, Felice
Elce, Ausilia
Liguori, Renato
Bruzzese, Dario
Di Lullo, Antonella Miriam
Castaldo, Giuseppe
Zarrilli, Federica
Comegna, Marika
Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title_full Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title_fullStr Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title_full_unstemmed Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title_short Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization
title_sort molecular analysis of prothrombotic gene variants in venous thrombosis: a potential role for sex and thrombotic localization
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231221/
https://www.ncbi.nlm.nih.gov/pubmed/32252449
http://dx.doi.org/10.3390/jcm9041008
work_keys_str_mv AT cerneragustavo molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT diminnoalessandro molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT amatofelice molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT elceausilia molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT liguorirenato molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT bruzzesedario molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT dilulloantonellamiriam molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT castaldogiuseppe molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT zarrillifederica molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization
AT comegnamarika molecularanalysisofprothromboticgenevariantsinvenousthrombosisapotentialroleforsexandthromboticlocalization