Relationship between glyoxalase I gene polymorphisms and atherosclerotic cerebral infarction

Objective To investigate the association of glyoxalase Ⅰ(GLO1) gene polymorphisms with susceptibility to atherosclerotic cerebral infarction(ACI). Methods Single nucleotide polymorphisms(SNPs) rs1130534 and rs1049346 in the GLO1 gene were genotyped in 300 ACI patients and 300 healthy controls using the SNaPshot technique. Additionally, quantitative real–time PCR was employed to determine the GLO1 expression levels in 50 ACI patients and 50 healthy controls, respectively. Results In terms of the rs1049346 polymorphism, the respective frequencies of CC, CT and TT genotypes were 9.3%, 42.7% and 48.0% in the ACI patients, and 14.0%, 47.7% and 38.3% in the control group. The respective frequencies of C and T alleles were 30.7% and 69.3% in the ACI patients, and 37.8% and 62.2% in the control group. There were statistically significant differences in the genotype and allele frequencies of rs1049346 between the ACI patients and controls (genotype: χ2=6.877, P=0.032; allele: χ2=6.842, P=0.009). For rs1130534, the respective frequencies of AA, AT and TT genotypes were 52.0%, 42.0% and 6.0% in the ACI patients, and 60.0%, 33.7% and 6.3% in the control group. The respective frequencies of A and T alleles were 73.0% and 27.0% in the ACI patients, and 76.8% and 23.2% in the control group. However, no statistically significant differences were found in the distribution of genotypes or alleles of the rs1130534 SNP between the ACI patients and controls (all P> 0.05). The results of haplotype analysis revealed that the frequencies of the A–T and T–T (rs1130534–rs1049346) haplotypes in the ACI patients were all significantly higher compared to the controls (42.3% vs 39.0%, χ2=4.733, P=0.030; 27.0% vs 23.2%, χ2=5.699, P=0.017). Additionally, the GLO1 expression levels in the ACI patients were significantly lower than that in the healthy controls (Mann–Whitney U=911.5, P=0.020). Conclusion The results indicate that the rs1049346 polymorphism of GLO1 gene is associated with the susceptibility to ACI. Key words: Brain infarction; Atherosclerosis; Lactoylglutathione lyase; Polymorphism, single nucleotide; Genetic predisposition to disease