Correlation between single nucleotide polymorphisms in SLC2A9 promoter region and ischemic stroke

LIN Shao-peng; JIANG Hui-lin; CHEN Xiao-hui

Abstract：Objective To investigate the correlation between SLC 2A9 promoter single nucleotide polymorphisms (SNPs) and ischemic stroke susceptibility .Methods Peripheral blood DNA was extracted from 101 patients with ische-mic stroke, and the SLC2A9 promoter fragments were subsequently amplified by PCR .SNP allele frequencies were ob-tained by DNA sequencing .Statistical analysis was performed using the allele frequencies from "1000 Genomes Project"as controls .The genomic DNA sequences including the SNPs were predicted as potential transcriptional regulatory ele -ments by using bioinfonmatic software .Results 101 patients with ischemic stroke were completely resequenced .Seven single nucleotide variants were identified , and their distribution in this population were in Hardy -Weinberg equilibrium (P>0.05).There were significant differences in allele frequencies of SNP 2, SNP5 and SNP7 in the SLC2A9 promoter region between patients and controls ( P<0.05) .Bioinfomatic analysis showed that the sequence including wild -type al-leles of SNP5 had a potential GATA-1 transcriptional element .However, the sequence including mutant -type alleles of SNP5 had no potential transcriptional element .The sequence including two SNP alleles of SNP 7 had the same transcrip-tional elements.Conclusion These SNPs in SLC2A9 promoter region may be used as screening objects for ischemic stroke.