Ann Rehabil Med.  2017 Apr;41(2):197-203. 10.5535/arm.2017.41.2.197.

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

• Lee BY
• Chon J
• Kim HS
• Lee JH
• Yun DH
• Yoo SD
• Kim DH
• Lee SA
• Han YJ
• Lee H
• Kim JC
• Soh Y
• Chung JH
• Kim SK
• Park HJ

• KMID: 2389476
• DOI: http://doi.org/10.5535/arm.2017.41.2.197

Abstract

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.

Keyword

Brain infarction; Single nucleotide polymorphism; Activities of daily living

MeSH Terms

Activities of Daily Living
Brain Infarction
Caspase 3*
DNA
Humans
Introns
Logistic Models
National Institutes of Health (U.S.)
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Stroke*
Caspase 3
DNA

Figure

• 

  Fig. 1 The haplotype of CASP3 in the patients with ischemic stroke. LD block and haplotypes between rs1049216 and rs4647602 of the CASP3 gene. The LD block was moderately made between the two tested SNPs (D'=0.858, 95% confidence interval, 0.71–0.94; r2=0.156). LD, linkage disequilibrium; SNP, single nucleotide polymorphism.

• 

  Fig. 2 The haplotype of CASP9 in the patients with ischemic stroke. LD block and haplotypes between rs1052576 and rs1052571 of the CASP9 gene. Complete LD block was found between the two tested SNPs (D'=1 and r2=1). LD, linkage disequilibrium; SNP, single nucleotide polymorphism.

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