Cognitive impairment in patients with multiple sclerosis: association with the APOE gene and promoter polymorphisms
Cognitive impairment in patients with multiple sclerosis: association with the APOE gene and promoter polymorphisms
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DOI：
10.1177/1352458506070682
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发表时间：
2007-01-01
影响因子：
5.8
通讯作者：
Harlon, L. M.
中科院分区：
文献类型：
--
作者：
Parmenter, B. A.;Denney, D. R.;Harlon, L. M.
背景 研究将 APOE 基因的 epsilon 4 等位基因作为影响多发性硬化症 (MS) 严重程度的因素进行检查，但得出了相互矛盾的结果。鉴于 epsilon 4 等位基因与其他痴呆症之间的关联，这些研究的重点是身体残疾而忽视了认知障碍，这一点令人惊讶。只有两项研究探讨了 EA 等位基因与认知障碍之间的关系。方法对 263 名 MS 患者进行了神经心理学测试，并对他们目前的残疾状况进行了评估。确定了 APOE epsilon 和两个启动子区域多态性（-219 G/T 和 -491 A/T）的基因型。 结果 尽管效果普遍较弱，但具有 -491 AA 基因型的女性患者发病年龄较晚，残疾评分较低，认知电池评分较高。携带 epsilon 2 等位基因的男性患者的残疾程度较低，认知能力得分较高。 epsilon 4 等位基因与身体残疾无关，并且 epsilon 4 + 和 epsilon 4 - 患者的整体认知表现没有差异。然而，当发现患有严重认知障碍的患者时，这些患者中携带 epsilon 4 等位基因的比例 (52%) 高于未受损组 (27%)。结论 在本研究中，与 epsilon 4 等位基因的相关性很明显，但仅限于严重认知障碍的病例。
Background Studies examining the epsilon 4 allele of the APOE gene as a factor affecting the severity of multiple sclerosis (MS) have yielded conflicting results. The focus of these studies on physical disability to the neglect of cognitive impairment is surprising in light of the associations between the epsilon 4 allele and other dementia conditions. Only two studies examine the relationship between the EA allele and cognitive impairment.Methods A neuropsychological test battery was administered to 263 MS patients, and their current disability status was evaluated. Genotypes were determined for APOE epsilon and for two promoter region polymorphisms ( -219 G/T and -491 A/T).Results Although effects were generally weak, female patients with the -491 AA genotype had a later age of disease onset, lower disability scores, and somewhat higher scores on the cognitive battery. Male patients with the epsilon 2 allele had lower disability and higher scores on the cognitive battery. The epsilon 4 allele was not related to physical disability, and there was no difference between epsilon 4 + and epsilon 4 - patients in overall cognitive performance. However, when patients with severe cognitive impairment were identified, a greater proportion (52%) of these patients had the epsilon 4 allele than those in the unimpaired group (27%).Conclusion An association with the epsilon 4 allele was evident in this study, but only in cases of severe cognitive impairment.