Genetic association between PLTP gene polymorphisms and Alzheimer's disease in a Japanese population.
OBJECTIVE
A recent paper reported that the phospholipid transfer protein (PLTP) reduces phosphorylation of tau in human neuronal cells. In addition, patients with Alzheimer's disease (AD) have significantly higher levels of PLTP in brain tissue and significantly lower PLTP-mediated phospholipid transfer activity in cerebrospinal fluid. PLTP also affects apolipoprotein E (APOE) secretion from glial cells. This study aimed to investigate whether single nucleotide polymorphisms (SNPs) of the PLTP gene are associated with AD.


METHODS
Five SNPs, genotyped using TaqMan technology, were analyzed using a case-control study design. Furthermore, we also checked for a synergetic association between the PLTP gene, APOE and AD. Our case-control dataset consisted of 180 AD patients and 130 age-matched controls.


RESULTS
None of the SNPs showed a statistically significant association. We could not confirm any synergetic association between the SNPs and APOE in our AD patients.


CONCLUSIONS
Our results indicate that there is no genetic association between PLTP and AD. Due to the relatively small sample size and the incomplete coverage of the region surrounding the PLTP gene of this study, larger genetic studies covering the entire PLTP gene region are needed.
Kuerban
Bolati
B
Department of Psychiatry, Juntendo University School of Medicine, Tokyo, Japan.
Shibata
Nobuto
N
Komatsu
Miwa
M
Ohnuma
Tohru
T
Arai
Heii
H
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000453:epidemiology* / Q000235:genetics*; D001057:Apolipoproteins E / Q000235:genetics; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D030541:Databases, Genetic; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D049294:Phospholipid Transfer Proteins / Q000134:cerebrospinal fluid / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction
D001057:Apolipoproteins E; C493430:PLTP protein, human; D049294:Phospholipid Transfer Proteins; D004247:DNA