Polymorphisms in prothrombotic genes in young stroke patients in Greece

Abstract

Mechanisms of ischemic stroke in young adults are poorly understood. The aim of the study was to investigate and compare the frequency of common variations in prothrombotic genes between young patients with ischemic stroke and controls. Fifty-one cases of first-ever ischemic stroke and 70 community-based controls aged below 50 years were studied. In both groups, the insertion/deletion 4G/5G variation (-675 4G/5G PAI-1) as well as the single-nucleotide polymorphism-844 G/A of the PAI-1 (-844 G/A PAI-1) gene promoter, factor V Leiden (FVL) G1691Α, the prothrombin variant (allele 20210A, FIIG20210A), factor XIII-A Val34Leu polymorphism (FXIII-AVal34Leu) and C677T methylenotetrahydrofolate reductase (C677T MTHFR) polymorphism have been assessed. The -675 4G/5G PAI-1 allele distribution differed significantly between patients and controls (P = 0.020), but no difference was found regarding the distribution of -844 G/A PAI-1 (P = 0.493), FVL (P = 0.199), FIIG20210A (P = 0.410), FXIII-AVal34leu (P = 0.160) and C677T MTHFR (P = 0.788). A lower frequency of 5G/5G genotype and a higher frequency of the 4G/5G genotype of the PAI -675 4G/5G polymorphism was found in young ischemic stroke patients compared to healthy controls. Further epidemiological studies are needed to investigate the differences between different geographic areas, and prospective cohort studies are needed to investigate the possible protective role of 5G/5G polymorphism.

The Role of PAI-1 4G/5G Promoter Polymorphism and Its Levels in the Development of Ischemic Stroke in Young Indian Population

“…The higher prevalence of 4G/4G genotype in our patient population with IS (compared to controls) supports the earlier reports. 35,36 Our present study has shown a significant association of the 4G allele with IS in young Asian Indian population. It is noteworthy that we have previously reported a significant association of 4G allele with deep vein thrombosis 23 in the same population.…”

Characterization of blood flow through intrapulmonary arteriovenous anastomoses and patent foramen ovale at rest and during exercise in stroke and transient ischemic attack patients

“…In our study, we observed almost one‐third of patients with 4G/4G genotype and lower frequency of the 5G/5G genotype (16.7%). Lower frequency of 5G/5G genotype and a higher frequency of the 4G/5G genotype of the PAI‐1 4G/5G polymorphism were found in young (<50 years) ischemic stroke patients compared to controls . Data from a recent meta‐analysis showed that the ACE I/D polymorphism may be a risk factor for ischemic stroke, and ACE D/D genotype could increase the risk of ischemic stroke in Caucasians .…”

“…Lower frequency of 5G/5G genotype and a higher frequency of the 4G/5G genotype of the PAI-1 4G/5G polymorphism were found in young (<50 years) ischemic stroke patients compared to controls. 34 Data from a recent meta-analysis showed that the ACE I/D polymorphism may be a risk factor for ischemic stroke, and ACE D/D genotype could increase the risk of ischemic stroke in Caucasians. 35 Similar findings were observed in our study: the D allele and DD genotype frequencies (54.2% and 25%, respectively) demonstrated an association between ACE polymorphisms and stroke.…”

Relationship between factor V leiden gene variant and risk of ischemic stroke: A case–control study

“…[ 11 ] Another study reported from Greece also failed to observe the statistically significant association between Factor V Leiden gene polymorphism and risk of IS. [ 12 ] A study published by Hamedani in 2013, failed to observe the evidence of an association between Factor V Leiden and either overall IS or the different subtypes of IS. [ 13 ]…”