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J Stroke Cerebrovasc Dis. 2014 Mar;23(3):e171-6. doi: 10.1016/j.jstrokecerebrovasdis.2013.09.025. Epub 2013 Nov 1.

The role of classic risk factors and prothrombotic factor gene mutations in ischemic stroke risk development in young and middle-aged individuals.

Author information

  • 1University Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb. Electronic address:
  • 2Department of Medical Statistics, Epidemiology, and Medical Informatics, Andrija Stampar School of Public Health, University of Zagreb School of Medicine, Zagreb.
  • 3University Department of Chemistry, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
  • 4University Department of Neurology, Sestre milosrdnice University Hospital Center, Zagreb.



In young individuals, a genetically predisposing hypercoagulability and classic modifying risk factors can act synergistically on the ischemic stroke risk development. The aim of the study was to compare the prevalence of classic vascular risk factors and polymorphisms of the G20210A coagulation factor II (prothrombin), Arg506Glu coagulation factor V Leiden, C677T methylenetetrahydrofolate reductase (MTHFR), and 4G/5G plasminogen activator inhibitor-1 (PAI-1) and the impact of these gene mutations and classic vascular risk factors on the overall stroke risk in individuals aged 55 years or younger.


The study included 155 stroke patients aged 55 years or younger and 150 control subjects. Stroke prevalence and odds ratio (OR) were assessed for the following parameters: G20210A prothrombin, Arg506Glu factor V Leiden, C677T MTHFR, and 4G/5G PAI-1 polymorphisms; total number of study polymorphisms in a particular subject (genetic sum); and classic vascular risk factors of hypertension, obesity, diabetes mellitus, cigarette smoking, hypercholesterolemia, hypertriglyceridemia, and elevated levels of low-density lipoprotein (LDL) cholesterol and very low-density lipoprotein cholesterol.


The prevalence of hypertension (P < .001), smoking (P < .001), decreased HDL cholesterol levels (P < .001), obesity (P = .001), elevated LDL cholesterol (P = .036), C677T MTHFR polymorphism (P < .001), and genetic sum was significantly higher in the group of stroke patients. The following parameters were found to act as independent risk factors for ischemic stroke: decreased HDL cholesterol level (P < .001; OR 4.618; 95% confidence interval [CI] 2.381-8.957); hypertension (P = .001; OR 2.839; 95% CI 1.519-5.305); obesity (P = .040; OR 2.148; 95% CI 1.036-4.457); smoking (P = .001; OR 2.502; 95% CI 1.436-4.359); and genetic sum as a continuous variable (P < .01; OR 2.307; 95% CI 1.638-3.250).


Gene mutations of the procoagulable and proatherosclerotic factors investigated exerted a synergistic action in the development of overall risk of ischemic stroke in young and middle-aged individuals.

Copyright © 2014 National Stroke Association. Published by Elsevier Inc. All rights reserved.


Genetics; ischemic stroke; risk factors; young adults

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