Prevalence of Prothrombotic Polymorphisms in Greece

Abstract

The aim of this study was to assess the prevalence of several polymorphisms in genes that are involved in several pathways such as hemostasis, fibrinolysis, platelet membrane receptor activity, endothelial integrity and function, lipid metabolism, and regulation of blood pressure in healthy subjects of Greek origin. Most of these polymorphisms are mainly associated with conditions such as venous thromboembolism and atherothrombosis, and their prevalence has not been studied yet in Greece. We tested 140 healthy individuals for factor V (FV)1691G/A, FV4070G/A, FII 20210G/A, factor XIII (FXIII) exon 2G/T, fibrinogen beta-455G/A, plasminogen activator inhibitor-1 (PAI-1)-675 4G/5G, human platelet antigens 1 (HPA1) a/b, apolipoprotein B (ApoB) 10708 G/A, apolipoprotein E (ApoE) E2, E3, and E4, angiotensin-converting enzyme (ACE) D/I, 5,10 methylenetetrahydrofolate reductase (MTHFR) 677C/T, and MTHFR 1298A/C polymorphisms using a PCR and reverse hybridization technique that detects all of them simultaneously. The allele frequencies observed are in accordance with those reported in other Caucasian populations and almost identical to those of East Mediterranean populations. This first report from Greece may serve as a baseline for planning further investigations of these polymorphisms in association with several clinical entities and for launching guidelines for patient testing of various disease settings in this population.

Prevalence of variants that confer risk for venous thromboembolism in an elderly population of northeastern Brazil

“…In eastern Spain, the mutation is observed in approximately 1% of the general population (Francès et al, 2006), whereas in the general population of Greece and southern Italy, for example, the mutation frequency is approximately 5% (Gialeraki et al, 2008;Sottilotta et al, 2009). The latter finding differs from that observed in the present study (P = 0.029), wherein an absence of the FV G1691A mutation was identified in a population from northeastern Brazil.…”

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

“…It is important to note that the genotype frequencies of all nine polymorphisms observed in the control group are similar to the frequencies reported in the general Greek population [24][25][26]. Also, the observed frequency of the E4 allele in the non-CVD control group -5.1% -is very similar to that of the gener- al Greek population (6.5%) [27].…”

“…Firstly, as ischemic stroke may be caused by occlusion (~80% of the cases) or hemorrhage (~20% of the cases) of cerebral blood vessels, several gene polymorphisms with a potential functional effect on blood coagulation proteins have been investigated in the last decade as potential risk factors for IS or CHD, with inconclusive results [28][29][30]. Similarly, a large number of published genome-wide association studies (GWAS) investigating thousands of single nucleotide polymorphisms (SNPs) across the human genome have failed to identify DNA sequence variants which, even when combined, are in a position to provide clinically useful and robust genotype-phenotype associations [26][27][28][29]. On the one hand, the results of these studies confirm the complex and multifactorial basis of cerebro-and cardiovascular disease in general, and more specifically of IS and CHD, while at the same time they exhibit considerable phenotypic variations in patient selection and study design.…”

Cross-sectional study of risk factors for atherosclerosis in the Azorean population

“…However, the extent of the contribution of genetic risk factors to this prevalence remains unstudied. We developed a cross-sectional study of risk factors for AT, including characterization of the polymorphisms in a series of established susceptibility genes for AT, namely ACE-angiotensin converting enzyme (Rigat et al 1990;Samani et al 1996;Sabbagh et al 2007), PAI1-plasminogen activator inhibitor 1 (Onalan et al 2008), NOS3-nitric oxide synthase (Casas et al 2004), LTA-lymphotoxin a (Schreyer et al 2002;Trompet et al 2008), FGB-fibrinogen b (Renner et al 2002;Gialeraki et al 2008), ITGB3-integrin b-3 (Marian et al 1996;Ridker et al 1997;Knowles et al 2007), PON1-paraoxonase 1 (Mackness et al 1998;Salonen et al 1999;Garcés et al 2008) and APOE-apolipoprotein E (Burman et al 2009). …”