Association of apolipoprotein E gene polymorphism with small-vessel lesions and stroke type in moyamoya disease: a preliminary study

作者：Jang Dong Kyu; Huh Pil Woo^*; Lee Kwan Sung

来源：Journal of Neurosurgery, 2016, 124(6): 1738-1745.

DOI：10.3171/2015.5.JNS142973

• apolipoprotein E
• genotypes
• moyamoya disease
• microbleeds
• microinfarcts
• vascular disorders

OBJECTIVE 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, whether APOE 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 nonhemorrhagic-type MMD (p = 0.003). APOE genotypes differed according to the presence of microbleeds (p = 0.024). APOE epsilon 2 or epsilon 4 carriers also experienced microbleeds more frequently than APOE epsilon 3/epsilon 3 carriers (p = 0.013). In the multivariate regression analysis in patients with MMD, microbleeds were significantly related to APOE 82 or e4 carrier status (OR 7.86; 95% CI 1.20-51.62; 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.

• 出版日期2016-6