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Background: Ischemic stroke (IS) is a multifactorial disease that presents high rates of morbimortality in Brazil. Several studies proved that there is a link between the ABO blood group system and the occurrence of thrombotic events. Nonetheless, its association with IS is not well established., Objective: For that reason, the purpose hereof was to investigate the relation between the ABO blood groups and the occurrence of IS in a Brazilian cohort of cerebrovascular diseases., Methods: Five hundred and twenty-nine subjects were included over 12 months, from which 275 presented an IS episode and 254 composed the control group. Blood samples were drawn for direct and reverse serotyping. The control and IS groups were compared regarding the traditional risk factors and the distribution of the ABO blood groups., Results: The IS group presented a higher prevalence of systemic arterial hypertension (SAH), diabetes mellitus, smoking habits, family history, cardiopathy, and sedentary lifestyle in comparison with the control group. The AB blood type prevailed among the patients (5.1 vs. 1.6%; p<0.05) and this group had more SAH cases in comparison with the O type group (92.9 vs. 67.3%; p<0.05)., Conclusions: Our results suggest that the occurrence of IS is more frequent among patients of the AB blood type.

Objective: The aim of this study was to investigate the relationship between genetic variants in candidate genes and clinical severity and prognosis (recurrence) of ischemic stroke (IS) in a Brazilian population., Methods: This was a retrospective study based on clinical and demographic data retrieved from the JOINVASC cohort-Epidemiological Study on Cerebrovascular Diseases in Joinville and on respective DNA samples available at the Joinville Stroke Biobank, over the period 2010-2015. Four hundred and thirty-five subjects were included. Patients were divided into large artery atherosclerosis (195 cases) and cardioembolic IS (240 cases) subgroups according to Trial of Org 10172 in the Acute Stroke Treatment standards. The severity of the event was established from the score obtained using the National Institutes of Health Stroke Scale. The genotypic and allelic frequencies of each variant were acquired by Real-Time Polymerase Chain Reaction. The codominance model was considered for the analysis of the genotypes' influence., Results: There was no association between clinical severity and recurrence with variants rs2383207 (CDKN2B-AS1) for atherothrombotic IS and variants rs879324 (ZFHX3), rs966221 (PDE4D), and rs152312 (PDE4D) for cardioembolic IS. The variants rs1396476, rs2910829, rs6843082, and rs2107595 were not in Hardy-Weinberg equilibrium in the evaluated population., Conclusions: Although this study failed to identify an association between genetic variants and clinical response variability, the need to carry out related studies with larger number of cases covering other populations and genetic variants remains, which would allow the uncovering of hypothetical genetic factors governing stroke outcomes and recurrence., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Ischemic Stroke (IS) is a severe and complex disorder of high morbidity and mortality rates associated with clinical, environmental, and genetic predisposing factors. Despite previous studies have associated genetic variants to stroke, inconsistent results from different populations pointed to the genetic heterogeneity for IS. Therefore, we may hypothesize that an interaction effect among genetic variants could contribute to IS occurrence rather than genetic variants independently. In this context, we investigated the association and interaction between genetic variants and large-artery atherosclerosis IS (LAAS-IS) and cardioembolic IS (CE-IS). We genotyped 435 patients (195 LAAS-IS; 240 CE-IS) and 535 controls from a population of Joinville, Santa Catarina, Brazil. Association and interaction analysis were performed by chi-square test and Multifactor-dimensionality Reduction test. We found an association between rs2383207*A allele, nearby CDKN2B-AS1, and LAAS-IS [OR 2.35 (95% CI = 1.79-3.08); p = 4.66 × 10 -10 ]. We found an interaction among rs2910829, rs966221 and rs152312, with an accuracy of 0.62 (p = 4.3 × 10 -5 ) demonstrating the interaction effect among variants from different genes can contribute to CE-IS risk. Further prediction analysis confirmed that clinical information, such as hypertension and dyslipidemia, presented high accuracy to predict LAAS-IS (86.47%) and CE-IS (90.47%); however, the inclusion of genetic variant information did not increase the accuracy., (Copyright © 2019 Elsevier B.V. All rights reserved.)