engleski

Gender specific effect of the FXIII-A Val34Leu polymorpshism on the risk for childhood and perinatal arterial ishemic stroke

Introduction: Although recent meta-analysis indicated the lack of evidence for the association between FXIII-A Val34Leu polymorphism and ischemic stroke in adults, studies evaluating the relationship of this polymorphism with arterial ischemic stroke (AIS) in children are scarce. Moreover, it has been consistently reported that AIS in children occurs more frequently in boys than in girls, with no explanation up to date. The aim of this study was to investigate the gender- specific effect of FXIII-A Val34Leu on the risk for childhood and perinatal AIS. Material and methods: The study group comprised of 52 children (35 boys, 17 girls) with childhood AIS, 43 children (24 boys, 19 girls) with perinatal AIS aged ≤18 years, and 125 age- and sex-matched (84 boys, 41 girls) control subjects. A genotype analysis of the FXIII-A Val34Leu polymorphism was performed using a commercial multilocus genotyping assay (CVD StripAssay, ViennaLab Diagnostics, Vienna, Austria). Genotype and allele frequencies obtained in gender-specific AIS subgroups (childhood and perinatal) were compared with frequencies obtained in gender- specific control subjects by using a dominant model. Results: A gender-specific difference of FXIII-A Val34Leu genotype frequencies was found in children with AIS (P=0.044), whereas this was not the case in control subjects (P=0.447). Besides, a statistically significant difference between FXIII-A Val34Leu genotype distributions was observed in boys with childhood AIS compared to boys from control subjects (P=0.045), resulting in a modest association of the presence of at least one FXIII- A Leu34 allele (OR=2.44 ; 95% CI=1.07- 5.53). In contrast, this association was found neither in boys with perinatal AIS (P=0.594 ; OR=1.27 ; 95% CI=0.51-3.15), nor in girls with childhood (P=0.265 ; OR=0.55 ; 95% CI=0.17-1.72) or perinatal AIS (P=0.083 ; OR=0.36 ; 95% CI=0.11- 1.14). Conclusion: This case-control study has revealed the gender-specific effect of the presence of FXIII-A Leu34 allele, that is associated with increased risk for childhood AIS in boys only.

FXIII-A Val34Leu ; childhood stroke ; perinatal stroke

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