Polymorphisms in prothrombotic genes in young stroke patients in Greece: a case-controlled study

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.