Association of the choline acetyltransferase gene with responsiveness to acetylcholinesterase inhibitors in Alzheimer's disease.
BACKGROUND
The response to acetylcholinesterase inhibitors (AChEIs) of Alzheimer's disease (AD) patients varies depending on the genetic characteristics of the patient. We have examined the association of response to AChEIs and genetic polymorphisms in AD patients.


METHODS
158 patients with AD underwent treatment with AChEIs, and the therapeutic effect was assessed with the Korean version of the Mini Mental State Examination (K-MMSE). The association of 25 SNPs located in 3 genes (CHAT, CHT and ACHE) with changes in the K-MMSE score was analyzed.


RESULTS
The response to AChEIs in AD patients was significantly associated with 2 SNPs on the intronic region of CHAT rs2177370 (uncorrected P=0.0025, FDR controlled P=0.026) and rs3793790 (uncorrected P=0.0024, FDR controlled P=0.026).


CONCLUSIONS
The results of our study confirmed again that genetic polymorphism of CHAT has an influence on drug response in AD.
Department of Psychiatry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
H
H
Yoon
Department of Psychiatry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
W
W
Myung
Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
S-W
SW
Lim
Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
H S
HS
Kang
Biostatistics Team, Samsung Biomedical Research Institute, Seoul, Korea.
S
S
Kim
Center for Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
H-H
HH
Won
Pacific Behavioral Research Foundation, Carmel, CA, USA.
B J
BJ
Carroll
Department of Psychiatry, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
D K
DK
Kim
D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000188:drug therapy* / Q000235:genetics*; D016009:Chi-Square Distribution; D002795:Choline O-Acetyltransferase / Q000235:genetics*; D002800:Cholinesterase Inhibitors / Q000737:chemistry / Q000627:therapeutic use*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D015810:Linkage Disequilibrium; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D010597:Pharmacogenetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011569:Psychiatric Status Rating Scales; D012189:Retrospective Studies
D002800:Cholinesterase Inhibitors; D002795:Choline O-Acetyltransferase