TY - JOUR
T1 - ApoE-ε 4-dependent association of the choline acetyltransferase gene polymorphisms (2384G>A and 1882G>A) with Alzheimer's disease
AU - Ahn Jo, Sangmee
AU - Ahn, Kyungsook
AU - Kim, Ji Hyun
AU - Kang, Byung Hak
AU - Kim, Eunkyung
AU - Jo, Inho
AU - Kim, Doh Kwan
N1 - 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.
PY - 2006/6
Y1 - 2006/6
N2 - 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.
AB - 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.
KW - Alzheimer's disease
KW - Apolipoproteins E
KW - Choline acetyltransferase
KW - Single nucleotide polymorphism
UR - http://www.scopus.com/inward/record.url?scp=33646828805&partnerID=8YFLogxK
U2 - 10.1016/j.cca.2005.12.037
DO - 10.1016/j.cca.2005.12.037
M3 - Article
C2 - 16480703
AN - SCOPUS:33646828805
VL - 368
SP - 179
EP - 182
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 1-2
ER -