Association of the Choline Acetyltransferase Gene with Responsiveness to Acetylcholinesterase Inhibitors in Alzheimer’s Disease

Abstract

Introduction: 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).

Conclusion: The results of our study confirmed again that genetic polymorphism of CHAT has an influence on drug response in AD.

Key words

Alzheimer’s disease - acetylcholinesterase inhibitors - drug response - CHAT

^* These individuals contributed equally to this article as co-first authors

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