Association between ATP2B1 gene polymorphism and the onset of cerebral infarction

H.-Y. Tao, M. Xu, X.-M. Wang, X.-S. Lu

Department of Neurology, Tongren Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. lxssh@126.com

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• Neurology

OBJECTIVE: The aim of this study was to investigate the correlation between adenosine triphosphate (ATP) 2B1 gene polymorphism in cerebral infarction (CI) patients and the onset of CI.
PATIENTS AND METHODS: A total of 100 CI patients (CI group) and 88 healthy people who received physical examination (Control group) were enrolled as study subjects. Meanwhile, 4 mL of venous blood was extracted from each subject. The single nucleotide polymorphisms of rs19203, rs13412 and rs28313 in the promoter region of adenosine triphosphate (ATP) 2B1 gene were classified via conformation-difference gel electrophoresis. Chi-square was adopted to test whether the frequency of ATP2B1 genotype distribution conformed to genetic equilibrium law. Meanwhile, the correlations between ATP2B1 alleles and gene polymorphism sites and the onset of CI were analyzed. Enzyme-linked immunosorbent assay (ELISA) was performed to determine the level of vascular endothelial growth factor (VEGF) in the serum of CI patients. Furthermore, the correlation of ATP2B1 gene polymorphism with the expression level of VEGF was analyzed.
RESULTS: Hardy-Weinberg equilibrium analysis revealed that the polymorphisms of three ATP2B1 gene loci were in accordance with genetic equilibrium distribution (p>0.05). According to the results of genetic correlation analysis, the polymorphisms and alleles of ATP2B1 rs19203 and rs13412 were statistically correlated with the onset of CI (p<0.05). However, the rs28313 polymorphism and alleles were not correlated with the onset of CI (p>0.05). In addition, a statistically significant correlation between the polymorphisms of rs19203 and rs13412 and the expression level of VEGF was found in CI patients (p<0.05).
CONCLUSIONS: Rs19203 and rs13412 in the promoter region of the ATP2B1 gene are correlated with the onset of CI. However, rs28313 bears no relationship with CI.

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