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Ymittos Athens, Greece

Konialis C.,Diagnostic Genetics Center | Spengos K.,National and Kapodistrian University of Athens | Iliopoulos P.,Diagnostic Genetics Center | Karapanou S.,Diagnostic Genetics Center | And 5 more authors.
Advances in Clinical and Experimental Medicine | Year: 2016

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 cerebro- or 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). Conclusions. 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. © Copyright by Wroclaw Medical University. Source

Konialis C.,Diagnostic Genetics Center | Hagnefelt B.,Diagnostic Genetics Center | Sevastidou S.,Diagnostic Genetics Center | Pispili K.,Diagnostic Genetics Center | Pangalos C.,Diagnostic Genetics Center
Hemoglobin | Year: 2012

A 33-year-old adult male of Greek ethnicity, with hematological indices suggesting β0-thalassemia (β0-thal) trait, was investigated for HBB gene mutations in the course of preparation for preimplantation genetic diagnosis (PGD). Application of a routine diagnostic protocol, consisting of sequence analysis of the HBB gene, coupled to multiplex ligation-dependent probe amplification (MLPA), identified a single nucleotide deletion (-T) at codon 72 [HBB: c.216delT], leading to a novel pathogenic frameshift and protein-truncating β0-thal mutation (p.Phe72LeufsX18). © 2012 Informa Healthcare USA, Inc. Source

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