Chen L, Baum L, Ng H K, Chan Y S, Mak Y T, Woo J, Chiu H, Pang C P
Department of Anatomical and Cellular Pathology, Chinese University of Hong Kong, Shatin.
Neurosci Lett. 1998 Jan 23;241(1):33-6. doi: 10.1016/s0304-3940(97)00975-0.
The epsilon4 allele of apolipoprotein E (ApoE) is a risk factor in late-onset Alzheimer's disease (AD). As a receptor for ApoE, very-low-density lipoprotein receptor (VLDLR) might be involved in AD pathogenesis. A Japanese study [Okuizimi, K., et al., Nature Genet., 11 (1995) 207-209] has shown an increased 5 and decreased 8 CGG-repeat allele frequency in the 5' untranslated region of VLDLR in Japanese AD versus normal controls (N). Subsequent studies in Caucasian Americans failed to duplicate the result. We examined this polymorphism in pathologically- or clinically-diagnosed Chinese late-onset AD. Our data did not show a significant increase in the 5 CGG-repeat in AD, thus suggesting no association to VLDLR. However, our data did show that the allele frequencies for each CGG-repeat were similar in both Chinese and Japanese.
载脂蛋白E（ApoE）的ε4等位基因是晚发性阿尔茨海默病（AD）的一个风险因素。作为ApoE的一种受体，极低密度脂蛋白受体（VLDLR）可能参与了AD的发病机制。一项日本研究[Okuizimi, K., 等人，《自然遗传学》，11 (1995) 207 - 209]表明，与正常对照（N）相比，日本AD患者中VLDLR 5'非翻译区的CGG重复等位基因频率增加了5，而8减少了。随后对美国白种人的研究未能重复这一结果。我们检测了经病理或临床诊断的中国晚发性AD患者中的这种多态性。我们的数据并未显示AD患者中5个CGG重复序列有显著增加，因此表明与VLDLR无关联。然而，我们的数据确实表明，中国和日本人群中每个CGG重复序列的等位基因频率相似。
