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Cholineacetyltrasnferase (ChAT) is a key enzyme that facilitates synthesis of acetylcholine affecting the memory, learning, awakening and sleep process of the cerebrum. The object of this study was to test the hypothesis that the ChAT-gene 2384G>A (rs3810950) polymorphism is associated with Alzheimer’s disease (AD) susceptibility, and galantamine response. To elucidate a genetic predisposition of AD, we studied ChAT-gene 2384G>A (rs3810950) polymorphism in 52 AD patients in 93 normal controls. We also examined the association of this polymorphism and galantamine therapeutic response in 52 AD patients who received a 24-week galantamine treatment. There were no significant differences in the genotype or allele frequency of the ChAT polymorphism between the AD and control groups. However, we found that the allele-carrier distributions, allele frequency for the ChAT polymorphism differed significantly between responders and non-responders. The frequency of A-allele carriers (GA+AA) was higher in responders than in non-responders (chi-square=4.282, df=1, p=0.039), as was the A-allele frequency (chi-square=5.216, df=1, p=0.022). These results suggest that the ChAT-gene 2384G>A (rs3810950) polymorphism is associated with galantamine therapeutic response.
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