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Association of apolipoprotein E gene polymorphism with small-vessel lesions and stroke type in moyamoya disease: a
Dong-Kyu Jang1, Pil Woo Huh2, Kwan-Sung Lee3
1Departments of Neurosurgery, 1 Incheon St. Mary's Hospital;
Abstract:
OBJECT The present study was conducted to investigate whether microbleeds or microinfarcts are associated with apolipoprotein E (APOE) gene polymorphisms in patients with moyamoya disease (MMD), and if so, whetherAPOE gene polymorphisms are also associated with stroke type in patients with MMD. METHODS This cross-sectional, multicenter study included 86 consecutive patients with MMD who underwent T2*-weighted gradient echo or susceptibility-weighted MR imaging and 83 healthy control volunteers. Baseline clinical and radiological characteristics were recorded at diagnosis, and inter- and intragroup differences in the APOE genotypes were assessed. Multivariate binary logistic regression models were used to determine the association factors for small-vessel lesions (SVLs) and hemorrhagic presentation in patients with MMD. RESULTS There was no difference in APOE gene polymorphism and the incidence of SVLs between patients with MMD and healthy controls (p > 0.05). In the MMD group, 7 (8.1%) patients had microbleeds and 32 (37.2%) patients had microinfarcts. Microbleeds were more frequently identified in patients with hemorrhagic-type than in nonhemorrhagictype MMD (p = 0.003). APOE genotypes differed according to the presence of microbleeds (p = 0.024). APOE ε2 or ε4 carriers also experienced microbleeds more frequently than APOE ε3/ε3 carriers (p = 0.013). In the multivariate regression analysis in patients with MMD, microbleeds were significantly related to APOE ε2 or ε4 carrier status (OR 7.86; 95% CI1.20-51.62; p = 0.032) and cerebral aneurysm (OR 17.31; 95% CI 2.09-143.57; p = 0.008). Microinfarcts were independently associated with hypertension (OR 3.01; 95% CI 1.05-7.86; p = 0.007). Hemorrhagic presentation was markedly associated with microbleeds (OR 10.63; 95% CI 1.11-102.0; p = 0.041). CONCLUSIONS These preliminary results did not show a difference in APOE gene polymorphisms between patients with MMD and healthy persons. However, they imply that APOE gene polymorphisms may play certain roles in the presence of microbleeds but not microinfarcts in patients with MMD. A further confirmatory study is necessary to elucidate the effect of APOE gene polymorphisms and SVLs on the future incidence of stroke in patients with MMD.
Insights
Apolipoprotein E (APOE) gene polymorphisms are linked to microbleeds in moyamoya disease (MMD) patients, particularly hemorrhagic stroke types. However, no association was found with microinfarcts or between MMD patients and healthy controls regarding APOE genotypes.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis of the internal carotid arteries.
- Small-vessel lesions (SVLs), including microbleeds and microinfarcts, are increasingly recognized in MMD, potentially influencing stroke risk and type.
- Apolipoprotein E (APOE) gene polymorphisms are known risk factors for various cerebrovascular diseases, but their role in MMD-related SVLs remains unclear.
Purpose of the Study:
- To investigate the association between APOE gene polymorphisms and the presence of microbleeds and microinfarcts in patients with MMD.
- To determine if APOE gene polymorphisms are associated with stroke type (hemorrhagic vs. non-hemorrhagic) in MMD patients.
- To identify factors associated with SVLs and hemorrhagic presentation in MMD.
Main Methods:
- Cross-sectional, multicenter study involving 86 MMD patients and 83 healthy controls.
- All participants underwent MR imaging (T2*-weighted gradient echo or susceptibility-weighted imaging) to detect SVLs.
- APOE genotyping was performed, and multivariate binary logistic regression models were used to analyze associations.
Main Results:
- No significant difference in APOE gene polymorphism or SVL incidence was found between MMD patients and healthy controls.
- Microbleeds were present in 8.1% of MMD patients and were more frequent in hemorrhagic-type MMD (p = 0.003).
- APOE ε2 or ε4 carriers had a higher incidence of microbleeds (p = 0.013), which were significantly related to APOE ε2/ε4 status (OR 7.86) and cerebral aneurysm (OR 17.31).
- Microinfarcts were independently associated with hypertension (OR 3.01).
- Hemorrhagic presentation was markedly associated with microbleeds (OR 10.63).
Conclusions:
- APOE gene polymorphisms do not differ between MMD patients and healthy individuals.
- APOE gene polymorphisms may be associated with the presence of microbleeds, but not microinfarcts, in MMD patients.
- Further research is needed to confirm the role of APOE and SVLs in MMD stroke incidence.
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