Ischemic Stroke and Genetic Variants: In Search of Association with Severity and Recurrence in a Brazilian Population

Abstract 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.