Differences in a dinucleotide repeat polymorphism in the tau gene between Caucasian and Japanese populations: implication for progressive supranuclear palsy

C Conrad, N Amano, A Andreadis, Y Xia… - Neuroscience …, 1998 - Elsevier
C Conrad, N Amano, A Andreadis, Y Xia, K Namekataf, F Oyama, K Ikeda, K Wakabayashi…
Neuroscience letters, 1998Elsevier
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 …
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.
Elsevier