Hatanaka Y, Kamino K, Fukuo K, Mitsuda N, Nishiwaki-Ueda Y, Sato N, Satoh T, Yamamoto H, Yoneda H, Imagawa M, Miki T, Ohta S, Ogihara T
Department of Geriatric Medicine, Osaka University Medical School, Suita, Japan.
Clin Genet. 2000 Oct;58(4):319-23. doi: 10.1034/j.1399-0004.2000.580410.x.
Low density lipoprotein (LDL) receptor-related protein (LRP) gene polymorphisms located in the 5' region and in exon 3, and the apolipoprotein E (APOE) genotype were determined in 100 Japanese patients affected by late-onset Alzheimer's disease (AD). We matched 246 controls for age and found no association between the polymorphism located in the 5' region of the LRP gene. The distribution of LRP exon 3 genotypes and alleles did not differ between AD and the control groups. However, the frequency of T allele in the Alzheimer's group having APOE-epsilon4 was lower than that in the control group having APOE-epsilon4, but it was only marginally significant (p = 0.022). Age of onset was significantly younger in the patients with CC genotype than those carrying the T allele (p = 0.03), and this trend was more evident among non-APOE-epsilon4 carriers (p = 0.008). These results support the possibility that ApoE and LRP may contribute to the development of AD.
在100名晚发性阿尔茨海默病（AD）日本患者中，确定了位于5'区域和外显子3的低密度脂蛋白（LDL）受体相关蛋白（LRP）基因多态性以及载脂蛋白E（APOE）基因型。我们将246名对照者按年龄进行匹配，发现LRP基因5'区域的多态性与疾病无关联。AD组和对照组之间LRP外显子3基因型和等位基因的分布没有差异。然而，携带APOE-ε4的阿尔茨海默病组中T等位基因的频率低于携带APOE-ε4的对照组，但差异仅具有边际显著性（p = 0.022）。CC基因型患者的发病年龄显著低于携带T等位基因的患者（p = 0.03），并且这种趋势在非APOE-ε4携带者中更为明显（p = 0.008）。这些结果支持ApoE和LRP可能参与AD发病过程的可能性。
