Conrad C, Amano N, Andreadis A, Xia Y, Namekataf K, Oyama F, Ikeda K, Wakabayashi K, Takahashi H, Thal L J, Katzman R, Shackelford D A, Matsushita M, Masliah E, Sawa A
Department of Neurosciences, University of California-San Diego School of Medicine, La Jolla, USA.
Neurosci Lett. 1998 Jul 3;250(2):135-7. doi: 10.1016/s0304-3940(98)00417-0.
Previous studies of a tau polymorphism in Caucasian subjects with progressive supranuclear palsy (PSP) showed an over-representation of one genotype, A0/A0, versus normal control subjects. This result suggested that tau may be playing a genetic role in the progression of PSP. This study examines whether the over-representation of A0/A0 is Caucasian-specific or universal to PSP. Unfortunately, we found this dinucleotide repeat was relatively non-polymorphic in Japanese subjects. As a result, the genotypes were virtually the same, A0/A0, between Japanese PSP and control subjects. However, this outcome, albeit negative, does suggest two possible roles of the tau gene in PSP pathogenesis: (1) the role of this dinucleotide repeat in PSP may be different between Caucasian and Japanese populations or (2) this repeat may not be causal for PSP but represents a marker for other molecular genetic risk factors within or close to the tau gene on chromosome 17.
先前针对患有进行性核上性麻痹（PSP）的白种人受试者的tau基因多态性研究表明，与正常对照受试者相比，一种基因型A0/A0的比例过高。这一结果表明tau基因可能在PSP的进展中发挥遗传作用。本研究旨在探讨A0/A0比例过高是白种人特有的现象还是PSP普遍存在的现象。遗憾的是，我们发现这种二核苷酸重复序列在日本受试者中相对缺乏多态性。因此，日本PSP患者与对照受试者的基因型实际上相同，均为A0/A0。然而，这一结果虽然是否定性的，但确实提示了tau基因在PSP发病机制中的两种可能作用：（1）这种二核苷酸重复序列在白种人和日本人群中对PSP的作用可能不同；或者（2）这种重复序列可能不是PSP的病因，而是17号染色体上tau基因内部或附近其他分子遗传风险因素的标志物。
