The xeroderma pigmentosum group F (XPF) gene participates in the pathophysiological process of ischemic stroke, and XPF polymorphisms might be associated with ischemic stroke susceptibility. This study aimed to investigate XPF messenger RNA (mRNA) levels in peripheral blood mononuclear cells and protein levels in plasma and to analyze the 30028T/C polymorphism (rs1799801) in ischemic stroke patients and controls. Levels of both mRNA and protein in ischemic stroke patients were significantly lower than in controls (P < 0.05). The C allele of the 30028T/C polymorphism significantly increased the risk of ischemic stroke (OR = 1.512, 95 % CI = 1.219-1.875). The CT and CC/CT genotypes of 30028T/C were observed significantly more frequently in ischemic stroke patients than in controls (CT: OR = 1.916, 95 % CI = 1.446-2.539;
Cc/ct: OR = 1.877, 95 % CI = 1.427-2.468). Similar results were obtained after adjusting for age, gender, and smoking status. Additionally, XPF plasma protein levels were significantly decreased in the CC/CT genotype compared with the TT genotype (P = 0.025). These data indicate that XPF might play an important role in the pathophysiological process of ischemic stroke, and the 30028T/C polymorphism might be associated with ischemic stroke susceptibility in a Chinese Han population.
Keywords: Genetic susceptibility; Ischemic stroke; Single-nucleotide polymorphisms; Xeroderma pigmentosum group F (XPF).