Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
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ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2016, vol. 25, nr 3, May-June, p. 471–478

doi: 10.17219/acem/38841

Publication type: original article

Language: English

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The APOE E4 Allele Confers Increased Risk of Ischemic Stroke Among Greek Carriers

Christopher Konialis1,A,B,C,D,E,F, Konstantinos Spengos2,B,C,E,F, Panagiotis Iliopoulos1,B,C, Sophia Karapanou1,B,C, Elias Gialafos2,B,E,F, Birgitta Hagnefelt1,B,C, Konstantinos Vemmos3,B,E,F, Nikolaos Zakopoulos3,B,E,F, Constantinos Pangalos1,A,E,F

1 InterGenetics, Diagnostic Genetics Center, Athens, Greece

2 1st Department of Neurology, Eginition Hospital, University of Athens School of Medicine, Athens, Greece

3 Department of Clinical Therapeutics, University of Athens, “Alexandra” University Hospital, Athens, Greece


Background. Although several studies in various countries have indicated that the presence of the E4 allele of the apolipoprotein-E (APOE) gene is a risk factor for ischemic cerebrovascular disease, the strength of this association still remains a matter of debate.
Objectives. The aim of the study was to determine the frequency of the APOE E4 allele and various other gene polymorphisms in in a well-characterized sample of Greek patients and to evaluate the potential associations with the risk of ischemic stroke (IS) and coronary heart disease (CHD).
Material and Methods. A total of nine gene variants/polymorphisms – F5 (Leiden – R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T – A222V, rs1801133), MTHFR (1298A > C – E429A, rs1801131), FGB (–455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G – rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) – were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). A statistical analysis was performed using univariate and multivariate logistic regression models.
Results. No significant association was found regarding most gene polymorphisms and the presence of IS or CHD in the patient cohort. However, the APOE E4 allele frequency was significantly higher (p = 0.02) among patients with ischemic stroke (IS) or IS + CHD (12.7%) when compared to the controls (5.1%). More accurately, E4 carriers had 2.66 and 2.71 times greater likelihood of IS or IS + CHD than non-carriers, respectively (OR = 2.66, 95% CI 1.39–5.07, OR = 2.71, 95% CI 0.98–7.48).
Conclusion. In contrast to some previous studies, these results support the role of the APOE E4 allele as an independent risk factor for ischemic stroke and ischemic coronary heart disease among Greek patients.

Key words

ischemic stroke, gene polymorphisms, apolipoprotein E gene, E4 allele

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