Polymorphisms in the phosphate and tensin homolog gene are not associated with late-onset Alzheimer's disease.
The varepsilon4 allele of the APOE locus is the only confirmed risk factor for late-onset Alzheimer's disease (LOAD). The phosphate and tensin homolog (PTEN) gene is both a biological and positional candidate gene for LOAD. Eight polymorphisms spanning this gene were selected from dbSNP and genotyped in pooled DNA samples of both cases and controls. No evidence for association with LOAD was obtained in this study although further investigation revealed low levels of linkage disequlibrium (LD) between the genotyped SNPs. Our results suggest that it is unlikely that genetic variation within the PTEN gene contributes to risk of LOAD.
MRC Centre for Neurodegeneration Research, Department of Neuroscience, Institute of Psychiatry, Kings College London, Denmark Hill, London SE5 8AF, UK. G.Hamilton@iop.kcl.ac.uk
Gillian
G
Hamilton
Farzana
F
Samedi
Jo
J
Knight
Nicola
N
Archer
Catherine
C
Foy
Sarah
S
Walter
Dragana
D
Turic
Luke
L
Jehu
Pamela
P
Moore
Paul
P
Hollingworth
Michael C
MC
O'Donovan
Julie
J
Williams
Michael J
MJ
Owen
Simon
S
Lovestone
John F
JF
Powell
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D001921:Brain / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D005819:Genetic Markers; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human