Alvarez Victoria, González Pelayo, Corao Ana I, Menéndez Manuel, Lahoz Carlos H, Martínez Carmen, Calatayud Maite, Morales Blanca, Coto Eliecer
Genética Molecular, Hospital Universitario Central de Asturias 33006, Oviedo, Spain.
Alzheimer Dis Assoc Disord. 2008 Apr-Jun;22(2):177-80. doi: 10.1097/WAD.0b013e3181572046.
Arachidonate 5-lipoxygenase plays an important role in the synthesis of leukotrienes. Leukotrienes are inflammatory mediators, and inflammation has been implicated in the pathogenesis of Alzheimer disease. A polymorphism in the ALOX5 promoter consisting on 3 to 6 tandem-repeats of a Sp1/Egr1 binding motif (GGGCGG)n, has been related with the amount of gene expression. To verify the association between this polymorphism and the risk for late-onset Alzheimer disease we genotyped a total of 291 patients (mean age 74+/-7 y) and 300 controls (mean age 73+/-8 y). We found alleles of 3 to 6 repeats, and allele and genotype frequencies did not differ between patients and controls. These frequencies did not differ between patients according to the APOE genotype (epsilon 34 + epsilon 44 vs. epsilon 23 + epsilon 33). Together, our results indicate that the Sp1/Egr1-repeat polymorphism in the ALOX5 promoter is not a genetic marker for the risk of developing late-onset Alzheimer disease.
花生四烯酸5-脂氧合酶在白三烯的合成中起重要作用。白三烯是炎症介质，且炎症与阿尔茨海默病的发病机制有关。ALOX5启动子中的一种多态性由Sp1/Egr1结合基序（GGGCGG）n的3至6个串联重复组成，与基因表达量有关。为了验证这种多态性与晚发型阿尔茨海默病风险之间的关联，我们对总共291例患者（平均年龄74±7岁）和300名对照者（平均年龄73±8岁）进行了基因分型。我们发现了3至6个重复的等位基因，患者和对照者之间的等位基因和基因型频率没有差异。根据APOE基因型（ε34 + ε44与ε23 + ε33），患者之间的这些频率也没有差异。总之，我们的结果表明，ALOX5启动子中的Sp1/Egr1重复多态性不是晚发型阿尔茨海默病发病风险的遗传标志物。
