The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.
Although it is clear that microtubule associated protein tau (MAPT) is involved in Alzheimer's disease (AD) pathology, it has not been clear whether it is involved genetically. We have recently examined the MAPT locus in progressive supranuclear palsy and found that a haplotype (H1c) on the background of the well-described H1 clade is associated with PSP. Here we report that the same haplotype is associated with the risk of AD in two autopsy confirmed series of cases with ages at death >65 years.
Myers
A J
AJ
Laboratory of Neurogenetics, National Institute on Aging, National Institute of Health, Bethesda, MD 20892-3707, USA.
Kaleem
M
M
Marlowe
L
L
Pittman
A M
AM
Lees
A J
AJ
Fung
H C
HC
Duckworth
J
J
Leung
D
D
Gibson
A
A
Morris
C M
CM
de Silva
R
R
Hardy
J
J
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D005260:Female; D005838:Genotype; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D016875:tau Proteins
D001057:Apolipoproteins E; C054369:MAPT protein, human; D009419:Nerve Tissue Proteins; D010750:Phosphoproteins; D016875:tau Proteins