Clinical and Genetic Risk Factors in Patients with an Unspecified (Cryptogenic) Pathogenetic Variant According to the TOAST Criteria

Background. Recent studies emphasize the heterogeneity of cryptogenic ischemic stroke (IS), highlighting the importance of identifying clinical and genetic risk factors.
Objective. This study explores the associations between genetic markers affecting spontaneous and induced platelet aggregation (PA) and clinical parameters in patients with unspecified IS according to TOAST criteria, aiming to uncover potential risk factors and understand the disease’s pathogenetic mechanisms.
Materials and methods. The study included 196 patients diagnosed with unspecified ischemic stroke. We examined the associations of various gene polymorphisms (ITGB3, GPIba, TBXA2R, ITGA2, PLA2G7, HMOX1, PTGS1, PTGS2, ADRA2A, ABCB1, PEAR1) with clinical and laboratory parameters.
Results. The G/G rs1062535 ITGA2 genotype was linked to significantly lower spontaneous aggregation rates than the G/A+A/A genotypes. Patients with the C/C PLA2G7 genotype had a significantly lower spontaneous aggregation level (SA %) compared to T/C+T/T genotypes (p = 0.041). The C/C genotype rs4523 TBXA2R showed a significantly lower ADP-induced PA rate compared to C/T+T/T (p < 0.050). Similarly, those with the C/C genotype rs5918 ITGB3 had significantly lower adrenaline-induced PA rates compared to T/T+T/C. Conversely, patients with the A/A genotype rs1062535 ITGA2 exhibited significantly higher ristomycin-induced AT rates than G/G+G/A genotypes.
Conclusion. The G/A+A/A ITGA2, T/C+T/T PLA2G7, C/T+T/T TBXA2R, and A/A ITGA2 genotypes may serve as potential markers for the course of unspecified ischemic stroke.

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