Factor V Leiden, prothrombin, MTHFR, and PAI-1 gene polymorphisms in patients with arterial disease: A comprehensive systematic-review and meta-analysis.

Cerebrovascular disorder Coronary artery disease Genetic polymorphisms Peripheral arterial disease Thrombophilia

Journal

Thrombosis research
ISSN: 1879-2472
Titre abrégé: Thromb Res
Pays: United States
ID NLM: 0326377

Informations de publication

Date de publication:
Oct 2023
Historique:
received: 29 05 2023
revised: 04 07 2023
accepted: 09 08 2023
pubmed: 30 8 2023
medline: 30 8 2023
entrez: 29 8 2023
Statut: ppublish

Résumé

The role of inherited thrombophilia in arterial disease is uncertain. We performed a systematic-review and meta-analysis of inherited thrombophilia in cerebrovascular (CVD), coronary heart (CHD), and peripheral artery disease (PAD) patients. MEDLINE and EMBASE were searched up to February 2022. Pooled prevalences (PPs) and odds ratios (ORs) with 95 % confidence intervals (95%CI) were calculated in a random-effects model. Factor V Leiden (G1691A), prothrombin (G20210A), MTHFR C677T/A1298C and PAI-1 4G/5G were evaluated. 377 studies for 98,186 patients (32,791 CVD, 62,266 CHD, 3129 PAD) and 108,569 controls were included. Overall, 37,249 patients had G1691A, 32,254 G20210A, 42,546 MTHFR C677T, 8889 MTHFR A1298C, and 19,861 PAI-1 4G/5G gene polymorphisms. In CVD patients, PPs were 6.5 % for G1691A, 3.9 % for G20210A, 56.4 % for MTHFR C677T, 51.9 % for MTHFR A1298C, and 77.6 % for PAI-1. In CHD, corresponding PPs were 7.2 %, 3.8 %, 52.3 %, 53.9 %, and 76.4 %. In PAD, PPs were 6.9 %, 4.7 %, 55.1 %, 52.1 %, and 75.0 %, respectively. Strongest ORs in CVD were for homozygous G1691A (2.76; 95 %CI, 1.83-4.18) and for homozygous G20210A (3.96; 95 %CI, 2.05-7.64). Strongest ORs in CHD were for homozygous G1691A (OR 1.68; 95%CI, 1.02-2.77) and G20210A (heterozygous 1.49 95%CI, 1.22-1.82; homozygous 1.54 95%CI, 0.79-2.99). The OR for PAI-1 4G/4G in PAD was 5.44 (95%CI, 1.80-16.43). Specific subgroups with higher PPs and ORs were identified according to age and region. Patients with arterial disease have an increased prevalence and odds of having some inherited thrombophilia. Some thrombophilia testing may be considered in specific subgroups of patients.

Identifiants

pubmed: 37643522
pii: S0049-3848(23)00232-3
doi: 10.1016/j.thromres.2023.08.006
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

74-83

Informations de copyright

Copyright © 2023. Published by Elsevier Ltd.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: E. Valeriani, D. Pastori, G. Astorri, D. Menichelli, and P. Pignatelli have nothing to disclose. A. Porfidia reports personal fees from Bayer, Boehringer Inghelheim, Daiichi Sankyo, BMS-Pfizer, Novartis and Aspen, outside the submitted work.

Auteurs

Emanuele Valeriani (E)

Department of General Surgery and Surgical Specialty, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy; Department of Infectious Disease, Umberto I Hospital, Viale del Policlinico 155, Rome, Italy. Electronic address: emauele.valeriani@uniroma1.it.

Daniele Pastori (D)

Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.

Giulia Astorri (G)

Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.

Angelo Porfidia (A)

Department of Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, 00168 Rome, Italy.

Danilo Menichelli (D)

Department of General Surgery and Surgical Specialty, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.

Pasquale Pignatelli (P)

Department of Clinical Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.

Classifications MeSH