Genetic Variations Observed in Arterial and Venous Thromboembolism – Relevance for Therapy, Risk Prevention and Prognosis : Clinical Chemistry and Laboratory Medicine uses cookies, tags, and tracking settings to store information that help give you the very best browsing experience.
To understand more about cookies, tags, and tracking, see our Privacy Statement
I accept all cookies for the De Gruyter Online site

Jump to ContentJump to Main Navigation

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

IMPACT FACTOR 2014: 2.707
Rank 6 out of 30 in category Medical Laboratory Technology in the 2014 Thomson Reuters Journal Citation Report/Science Edition

SCImago Journal Rank (SJR) 2014: 0.741
Source Normalized Impact per Paper (SNIP) 2014: 1.011
Impact per Publication (IPP) 2014: 2.310



30,00 € / $42.00 / £23.00

Get Access to Full Text

Genetic Variations Observed in Arterial and Venous Thromboembolism – Relevance for Therapy, Risk Prevention and Prognosis

Dominic J. Harrington / Agata Malefora / Veronika Schmeleva / Sergey Kapustin / Ludmila Papayan / Mikhail Blinov / Pip Harrington / Mike Mitchell / Geoffrey F. Savidge

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 41, Issue 4, Pages 496–500, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2003.075, June 2005

Publication History

Published Online:


We undertook genetic and biochemical assays in patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) to study causation and gene-life style interactions. In the clinical material from North Western Russia, factor V Leiden was found to be a risk factor in venous thrombosis (OR = 3.6), while the methylenetetrahydrofolate reductase (MTHFR) C677T mutation was a significant variable in both venous (p = 0.03) and arterial thrombosis (p = 0.004). Homocysteine levels were determined (n = 84) and hyperhomocysteinemia correlated with the T allele of the MTHFR gene, and with smoking and coffee consumption. Vitamin supplementation reduced homocysteine levels dependent on MTHFR genotype (36% TT, 25% CT, 22% CC). In pulmonary embolism patients, frequency of the −455G/A β-fibrinogen dimorphism was studied. Carriers of this allele were significantly underrepresented (p < 0.02) among pulmonary embolism survivors (34.5%) compared to controls (56.7%). Additionally, −455AA homozygotes were found in 11.7% controls but only 1.7% of pulmonary embolism patients (p = 0.006). In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the −455G/A β-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

Charles J. Glueck, Dawit Aregawi, Naila Goldenberg, Karl C. Golnik, Luann Sieve, and Ping Wang
Journal of Laboratory and Clinical Medicine, 2005, Volume 145, Number 2, Page 72
P Capaccio, F Ottaviani, V Cuccarini, U Ambrosetti, E Fagnani, A Bottero, S Cenzuales, B M Cesana, and L Pignataro
Genetics in Medicine, 2005, Volume 7, Number 3, Page 206
V. Tiedje, D. Dunkler, C. Ay, B. Horvath, P. Quehenberger, M. Pabinger, C. Zielinski, I. Pabinger, and C. Mannhalter
Thrombosis and Haemostasis, 2011, Volume 106, Number 5, Page 908
Nicole Reisch, Tim Roehnisch, Mojtaba Sadeghi, Leonie Greiner, Claudia Regenbogen, Johannes Rieger, Bertold Emmerich, and Fuat Oduncu
Leukemia Research, 2007, Volume 31, Number 6, Page 869
Harold Brem, Robert S Kirsner, and Vincent Falanga
The American Journal of Surgery, 2004, Volume 188, Number 1, Page 1

Comments (0)

Please log in or register to comment.