Single nucleotide polymorphism of CD40 in the 5'-untranslated region is associated with ischemic stroke

Objectives: Ischemic stroke is influenced by both environmental and genetic factors. The CD40/CD40L system is related to proinflammatory and prothrombogenic responses, which are involved in the pathophysiology of ischemic stroke. The aim of this study was to evaluate association between the CD40 -1C/T single nucleotide polymorphism (SNP) and ischemic stroke in a Chinese population.

Methods: We conducted a case-control study including 286 ischemic stroke patients and 336 controls. CD40 -1C/T SNP was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing methods, and evaluated its relevance to ischemic stroke susceptibility.

Results: Significantly increased ischemic stroke risk was found to be associated with the T allele of CD40 -1C/T (OR=1.273, 95% CI=1.016-1.594). The frequencies of CT and TT/CT genotypes of CD40 -1C/T in ischemic stroke patients were significantly higher than those of controls, respectively (for CT: OR=2.350, 95% CI=1.601-3.449; for TT/CT: OR=2.148, 95% CI=1.479-3.119). And, similar results were obtained after adjusting non-matched variables. We found that the frequency of carried T genotypes (TT and TT/CT) was significantly increased in patients with history of stroke compared with patients without (for TT: OR=6.538, 95%CI=1.655-25.833; for TT/CT: OR=3.469, 95%CI=1.031-11.670), respectively.

Conclusions: The findings suggested that the CD40 -1C/T polymorphism might contribute to the susceptibility to ischemic stroke in the Chinese population, and might be associated with history of previous stroke.