Parra-Bonilla Glenda, Arboleda Gonzalo, Yunis Juan, Solano Eugenia, Pardo Rodrigo, Arango Gabriel, Hedmont Daniel, Arboleda Humberto
Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia.
Neurosci Lett. 2003 Oct 9;349(3):159-62. doi: 10.1016/s0304-3940(03)00816-4.
Results analyzing the association between polymorphisms in the promoter region of the apolipoprotein E (APOE) gene and Alzheimer's disease (AD) are contradictory. We studied the association of three polymorphisms in the APOE promoter (-219T/G, -491A/T and -427T/C) with AD in a sample of the Colombian population. The polymorphism -491A/T confers increased risk for AD associated with AA genotype independent of APOEe4 allele (odds ratio (OR): 2.64) and more pronounced in men (OR: 6.07). Genotypes TT and TG of -219T/G showed a significant association with AD, but this was lost in an adjusted model. We did not find any association with -427T/C polymorphism. Using a haplogroup analysis of the promoter polymorphisms, we further confirmed their independent contribution as genetic risk factors for AD.
分析载脂蛋白E（APOE）基因启动子区域多态性与阿尔茨海默病（AD）之间关联的研究结果相互矛盾。我们在哥伦比亚人群样本中研究了APOE启动子的三种多态性（-219T/G、-491A/T和-427T/C）与AD的关联。多态性-491A/T使与AA基因型相关的AD风险增加，独立于APOEe4等位基因（优势比（OR）：2.64），且在男性中更显著（OR：6.07）。-219T/G的TT和TG基因型与AD存在显著关联，但在调整模型中这种关联消失了。我们未发现-427T/C多态性存在任何关联。通过对启动子多态性进行单倍型分析，我们进一步证实了它们作为AD遗传风险因素的独立作用。
