Association Between a Polymorphism in CASP3 and CASP9 Genes and Ischemic Stroke.

OBJECTIVE: To investigate whether the polymorphisms of CASP3 gene (rs4647602, intron A/C and rs1049216, UTR C/T) and CASP9 gene (rs1052576, Gln/Arg G/A and rs1052571, Ser/Val T/C) were associated with the development, and clinical severity of ischemic stroke and functional consequences after stroke.

METHODS: Genomic DNA from 121 ischemic stroke patients and 201 healthy control subjects were extracted, and polymerase chain reaction products were sequenced. To investigate the association of polymorphisms and the development, and National Institutes of Health Stroke Scale (K-NIHSS), logistic regression models were analyzed.

RESULTS: Polymorphism of the untranslational region of CASP3 (rs1049216, UTR C/T) has been associated with the development of ischemic stroke-in codominant1 model (odds ratio [OR], 0.51; 95% confidence interval [CI], 0.29-0.88; p=0.017), in dominant model (OR, 0.57; 95% CI, 0.34-0.97; p=0.034), and in the overdominant model (OR, 0.50; 95% CI, 0.29-0.87; p=0.011). A missense SNP of CASP9 gene (rs1052571, Ser/Val T/C) was associated with the development of ischemic stroke (OR, 1.93; 95% CI, 1.05-3.55; p=0.034 in recessive model).

CONCLUSION: These results indicate the possibility that CASP3 and CASP9 genes are markers for the development of ischemic stroke.