Ann Rehabil Med.  2016 Jun;40(3):392-400. 10.5535/arm.2016.40.3.392.

Association Between a Polymorphism (rs2071214) in Baculoviral IAP Repeat Containing 5 Gene (BIRC5) and Ischemic Stroke in Korean Population

• Chon J
• Kim HS
• Yun DH
• Yoo SD
• Kim DH
• Lee SA
• Kim SK
• Park HJ
• Chung JH
• Chung S
• Yeo J

• KMID: 2327600
• DOI: http://doi.org/10.5535/arm.2016.40.3.392

Abstract

OBJECTIVE
To investigate whether baculoviral inhibitor of apoptosis (IAP) repeat containing 5 gene (BIRC5) polymorphisms are associated with the development and clinical phenotypes of ischemic stroke in Korea population.
METHODS
We enrolled 121 ischemic stroke patients and 291 control subjects. Ischemic stroke patients were divided into subgroups according to the scores of National Institutes of Health Stroke Survey (<6 or ≥6) and Modified Barthel Index (<60 or ≥60). Single nucleotide polymorphisms (SNPs) of BIRC5 (rs3764383 and rs2071214) were selected and genotyped by direct sequencing for all subjects. Multiple logistic regression models (codominant 1 and 2, dominant, recessive, overdominant and log-additive) were used to estimate odds ratios (ORs), 95% confidence intervals (CIs), and p-values.
RESULTS
In analysis of stroke susceptibility, the genotype and allele frequencies of rs3764383 exhibited no difference between the control group and the ischemic stroke group. SNP rs2071214 was associated with ischemic stroke in the codominant (p=0.003), dominant (p=0.002), overdominant (p=0.005), and log-additive (p=0.008) models, respectively. The G allele frequency of rs2071214 was significantly (p=0.009) associated with susceptibility for ischemic stroke (OR, 1.57; 95% CI, 1.12-2.21). However, in the analysis for clinical phenotype, no SNP of the BIRC5 gene was found to be associated with ischemic stroke.
CONCLUSION
These results suggest that a missense SNP (rs2071214) of BIRC5 may be associated with the development of ischemic stroke in the Korean population.

Keyword

Brain infarction; BIRC5 protein; Single nucleotide polymorphism

MeSH Terms

Apoptosis
Brain Infarction
Gene Frequency
Genotype
Humans
Korea
Logistic Models
National Institutes of Health (U.S.)
Odds Ratio
Phenotype
Polymorphism, Single Nucleotide
Stroke*

Figure

• 

  Fig. 1 Selected two single nucleotide polymorphisms (SNPs) of BIRC5: rs3764383 and rs2071214.

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