Evaluation of choline acetyltransferase gene polymorphism (2384 G/A) in Alzheimer's disease and mild cognitive impairment.
OBJECTIVE
It has been hypothesized that choline acetyltransferase (ChAT) activity might be associated with cognitive impairment in Alzheimer's disease (AD). A functional single nucleotide polymorphism (2384 G/A) of ChAT was proposed to be associated with AD risk and age of onset. The aim of this study was to evaluate this polymorphism in a cohort of Chinese AD patients and patients with mild cognitive impairment (MCI).


METHODS
We conducted a case-control study in 273 cases of sporadic AD, 97 MCI patients and 271 nondemented controls from the Chinese Han population.


RESULTS
In AD, ChAT 2384 A carriers had a significantly earlier age of onset and worse individual cognitive function in Fuld Object-Memory Evaluation; in MCI, the carriers of both 2384 A and ApoE epsilon4 had a significantly earlier age of onset.


CONCLUSIONS
ChAT 2384 A allele is a risk factor for AD and MCI.
Guangzhou Brain Hospital, Affiliated Hospital of Guangzhou Medical College, Guangzhou, China. tangmuni@hotmail.com
Muni
M
Tang
Dongping
D
Rao
Cui
C
Ma
Yangbo
Y
Guo
Haiying
H
Han
Kangguang
K
Ling
Yuhua
Y
Ling
D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000208:ethnology* / Q000235:genetics*; D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D002795:Choline O-Acetyltransferase / Q000235:genetics*; D003072:Cognition Disorders / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006801:Humans; D008297:Male; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012720:Severity of Illness Index
D002795:Choline O-Acetyltransferase