Cerebral Small Vessel Disease is Associated with Genetic Variations in CYP2J

Background: Cerebral Small Vessel Disease (SVD) can cause cognitive impairment, disability and dementia. While it is still unclear about the pathogenesis of SVD, several risk factors of SVD have been identified, and studies suggested that hypertension may play a critical role in SVD. Furthermore, studies have demonstrated that CYP2J2 isoform, 50 G>T variant, is associated with increasing the risk of ischemic stroke. Thus, we hypothesized that CYP2J2 50 G>T variant is associated with increased risk of cerebral SVD. Methods: Thus, in this case-control study, we evaluated the association of CYP2J2 polymorphisms with the susceptibility to cerebral SVD in a population of Chinese Han adults. Results: We found that CYP2J2 50 G>T genotype was significantly higher in SVD patients compared to healthy control group. Furthermore, 50 G>T genotype of CYP2J2 was associated with a significantly higher risk of SVD. Additionally, this polymorphism was significantly associated with WMH volume and a number of impaired cognitive domains in SVD patients. Conclusion: In conclusion, our study demonstrated that CYP2J2 50 G>T polymorphism is associated with increased risk of cerebral SVD in Han Chinese.