ApoE-ε 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease

Sangmee Ahn Jo, Kyungsook Ahn, Ji Hyun Kim, Byung Hak Kang, Eunkyung Kim, Inho Jo, Doh Kwan Kim

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Background: One of the characteristic features of Alzheimer's disease (AD) is the degeneration of the cholinergic system. The gene encoding choline acetyltransferase (ChAT), a key enzyme in cholinergic function, is a candidate gene conferring risk for AD. But the genetic association of the enzyme with AD has been controversial. We analyzed 2 ChAT single nucleotide polymorphisms (SNPs), 2384G>A (rs3810950; Ala120Thr) and 1882G>A (rs1880676; Asp7Asn) and the ApoE polymorphisms in Korean population. Methods: The samples from 316 AD patients and 264 age-matched healthy controls were analyzed. The differences in genotype frequencies were assessed. Results: The 2 ChAT SNPs were almost completely linked with each other (r2 = 0.99, |D′| = 1.0). No significant difference in the ChAT genotype distribution was observed between the patients and the controls. However, in non-ApoE-ε4 allele carriers, multiple logistic regression analysis showed that both the GA and the GA/AA genotypes were associated with AD (OR = 1.639, 95% CI, 1.050-2.559, p = 0.0297 for GA; OR = 1.630, 95% CI, 1.049-2.532, p = 0.0297 for GA/AA), suggesting a dominant effect of A allele. Conclusion: There is considerable effect of the ChAT polymorphisms on AD in Korean population and this effect is dependent on ApoE genotypes.

Original languageEnglish
Pages (from-to)179-182
Number of pages4
JournalClinica Chimica Acta
Issue number1-2
StatePublished - Jun 2006

Bibliographical note

Funding Information:
We thank Mrs. S. Hur for her help in preparing the manuscript. This work was supported by the Biomedical Brain Research Center Grant (A040042) from Ministry of Health and Welfare to Dr. S.A. Jo.


  • Alzheimer's disease
  • Apolipoproteins E
  • Choline acetyltransferase
  • Single nucleotide polymorphism


Dive into the research topics of 'ApoE-ε 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease'. Together they form a unique fingerprint.

Cite this