Abstract：
:There are numerous polymorphisms within the tau gene but these are in complete linkage disequilibrium and exist as two common extended haplotypes H1 and H2. We have investigated the frequency of these haplotypes in 83 cases of sporadic Alzheimer's disease (AD) using the +34 polymorphism in intron 11 of the tau gene as a marker of H1 and H2 haplotypes. The total amount of hyperphosphorylated tau protein (tau load), present as neurofibrillary tangles, neuropil threads or plaque neurites, was quantified in the frontal cortex of these patients and related to tau haplotype. We found no increase in H1H1 haplotype in this autopsy population of cases with AD compared to published control data. Stratification of cases for apolipoprotein E (APO E) genotype showed a slight, but not statistically significant, overrepresentation of epsilon 4 allele amongst bearers of H2 haplotype. There were no overall differences in tau load between haplotype groups though cases within each haplotype group bearing APO E epsilon 4 allele had a significantly higher tau load than those without epsilon 4 allele. Neither age at onset or duration of illness differed according to tau haplotype. We conclude that the frequency of tau gene H1 haplotype is not elevated in AD and possession of this has no impact upon the amount of tau pathology in AD.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
Green EK,Thaker U,McDonagh AM,Iwatsubo T,Lambert JC,Chartier-Harlin MC,Harris JM,Pickering-Brown SM,Lendon CL,Mann DMdoi
10.1016/s0304-3940(02)00190-8keywords:
subject
Has Abstractpub_date
2002-05-17 00:00:00pages
113-6issue
2eissn
0304-3940issn
1872-7972pii
S0304394002001908journal_volume
324pub_type
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