Abstract
Background: Base excision repair (BER) is the primary DNA repair system with the ability to fix base lesions caused by oxidative damage. Genetic variants influencing the BER pathway may affect the susceptibility and the outcomes of ischemic stroke. Here, we examined how single nucleotide polymorphisms (SNPs) associated with BER impact susceptibility and short-term recovery of ischemic stroke. Methods: We selected 320 ischemic stroke patients and 303 controls. Then we genotyped SNPs of NEIL1 rs4462560, NEIL3 rs12645561 and XRCC1 rs25487 in both groups. Results: Polymorphism in XRCC1 rs25487 was significantly associated with reduced ischemic stroke (IS) risk (dominant model: OR = 0.53, 95% CI = 0.36–0.79, p = 0.002), a milder initial stroke (dominant model: OR = 0.57, 95% CI = 0.33–0.98, p = 0.043), and also a better short-term recovery (dominant model: OR = 0.57, 95% CI = 0.35–0.92, p = 0.022). No association was observed in the other two SNPs. Conclusions: Our study suggests that the genetic variant of XRCC1 rs25487 may contribute to the etiology of ischemic stroke.
Highlights
Stroke is the second most common cause of death worldwide and the leading cause of death and adult disability in China [1,2]
Serum total cholesterol, serum HDL-C, serum LDL-C concentration or body mass index (BMI) failed to be identified as risk factors for ischemic stroke (IS) in our study (Table 1)
These observations confirm the role of smoking, drinking, hypertension and diabetes as risk factors for IS
Summary
Stroke is the second most common cause of death worldwide and the leading cause of death and adult disability in China [1,2]. Reactive oxygen species (ROS) are byproducts of the normal cell metabolism of oxygen, which may result in significant damage to DNA structures. The role of ROS is complicated in ischemic stroke risks and outcomes. Chronic exposure to higher concentrations of ROS may damage the DNA of brain cells, which increase the risk of stroke. People with higher DNA repair activity may reduce such a risk. Ischemia-reperfusion injury after acute ischemic stroke is mediated by ROS [6]. Genetic variants influencing the BER pathway may affect the susceptibility and the outcomes of ischemic stroke. We examined how single nucleotide polymorphisms (SNPs) associated with BER impact susceptibility and short-term recovery of ischemic stroke. Results: Polymorphism in XRCC1 rs25487 was significantly associated with reduced ischemic stroke (IS)
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