Association of rs780094 and rs1260326 glucokinase regulatory protein gene polymorphisms with dyslipidemia in a group of Serbian acute ischemic stroke patients
Keywords:Acute ischemic stroke, glucokinase regulatory protein, rs780094, rs1260326, lipid profile
- Single nucleotide polymorphisms (SNPs) rs780094 and rs1260326 of the glucokinase regulatory protein gene (GCKR) could be associated with dyslipidemia, a leading risk factor for acute ischemic stroke (AIS) development.
- The influence of GCKR rs780094 and rs1260326 SNPs on the lipid profile and the association of these SNPs with the risk of AIS were assessed.
- The rs780094TT genotype and the rs1260326TT genotype were associated with decreased risk for AIS.
- This study provides a foundation for a better understanding of the biological basis of the influence of GCKR rs780094 and rs1260326 SNPs on AIS development.
Abstract: Although genetic variations rs780094 and rs1260326 of the glucokinase regulatory protein gene (GCKR) could be associated with lipid profile imbalance, their influence on acute ischemic stroke (AIS) risk has not yet been established. The aim of this study was to investigate the influence of GCKR single nucleotide polymorphisms (SNPs) rs780094 and rs1260326 on lipid profile parameters in patients with AIS, and to evaluate the association of these SNPs with the risk of AIS. In a case-control study, a total of 148 subjects were screened for GCKR rs780094 and rs1260326 SNPs using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The lipid profile was determined based on serum total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C) and triacylglycerol (TG) concentrations. The frequencies of the minor rs780094T allele and the minor rs1260326T allele were significantly lower in AIS patients compared to controls. The rs780094TT genotype and the rs1260326TT genotype were associated with decreased risk of AIS compared to wildtype carriers. In conclusion, this is the first study implying that decreased risk of AIS in rs780094 and rs1260326 homozygous minor allele carriers is not caused by dyslipidemia, but possibly by the lack of coagulation factor glycosylation.
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